MC

653b_2115

A patient has findings consistent with Wolf-Hirschhorn syndrome. The condition is caused by deletion of 4p. The karyotype is best summarized as: female with a deletion on chromosome 4p16.3. Which notation matches this? 46,XX,del(4)(p16.3) Correct 45,X Incorrect 46,XY,del(4)(p16.3) Incorrect 46,XY,del(22)(q11.2) Incorrect 46,XX/47,XX,+21 Incorrect MC

7b22_2635

A patient has findings consistent with Edwards syndrome. The condition is caused by trisomy 18. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 18. Which notation matches this? 46,XX/47,XX,+13 Incorrect 46,XY/47,XY,+18 Correct 47,XYY Incorrect 46,XY,del(4)(p16.3) Incorrect 46,XY/47,XX,+18 Incorrect MC

4e21_24a7

A patient has findings consistent with Down syndrome. The condition is caused by trisomy 21. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 21. Which notation matches this? 47,XX,+13 Incorrect 46,XY/47,XY,+13 Incorrect 46,XY/47,XY,+21 Correct 46,XX,del(5)(p15.2) Incorrect 45,X/46,XX Incorrect MC

c5e7_184b

A patient has findings consistent with Triple X syndrome. The condition is caused by extra X chromosome in a female. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 45,X/46,XX Incorrect 46,XY,del(4)(p16.3) Incorrect 46,XX/47,XXX Correct 46,XY/47,XYY Incorrect 47,XY,+18 Incorrect MC

9560_49a9

A patient has findings consistent with Down syndrome due to Robertsonian translocation. The condition is caused by unbalanced Robertsonian translocation involving chromosome 21. The karyotype is best summarized as: male with Robertsonian translocation involving chromosomes 14 and 21 with trisomy 21. Which notation matches this? 46,XX,del(4)(p16.3) Incorrect 47,XX,+18 Incorrect 46,XY,rob(14;12)(q10;q10),+21 Incorrect 47,XXX Incorrect 46,XY,rob(14;21)(q10;q10),+21 Correct MC

014f_a85c

A patient has findings consistent with DiGeorge syndrome. The condition is caused by microdeletion at 22q11.2. The karyotype is best summarized as: male with a deletion on chromosome 22q11.2. Which notation matches this? 47,XX,+21 Incorrect 46,XY/47,XY,+18 Incorrect 46,XY,del(22)(q11.2) Correct 46,XX/47,XX,+13 Incorrect 46,XY,t(9;22)(q34;q11.2) Incorrect MC

4e21_422e

A patient has findings consistent with Down syndrome. The condition is caused by trisomy 21. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 21. Which notation matches this? 46,XY/47,XY,+18 Incorrect 46,XY/47,XY,+19 Incorrect 45,X/46,XX Incorrect 46,XY/47,XY,+21 Correct 46,XY/47,XY,+13 Incorrect MC

b205_c292

A patient has findings consistent with Cri-du-chat syndrome. The condition is caused by deletion of 5p. The karyotype is best summarized as: male with a deletion on chromosome 5p15.2. Which notation matches this? 47,XX,+18 Incorrect 46,XY,del(5)(p15.2) Correct 46,XY,del(22)(q11.2) Incorrect 46,XY/47,XY,+21 Incorrect 46,XY/47,XXY Incorrect MC

5123_908c

A patient has findings consistent with Patau syndrome. The condition is caused by trisomy 13. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with trisomy 13. Which notation matches this? 46,XX,t(9;22)(q34;q11.2) Incorrect 46,XY,t(9;22)(q34;q11.2) Incorrect 46,XX/47,XX,+13 Correct 47,XY,+18 Incorrect 46,XX/47,XY,+13 Incorrect MC

bf46_8a46

A patient has findings consistent with Down syndrome. The condition is caused by trisomy 21. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with trisomy 21. Which notation matches this? 46,XX/47,XX,+21 Correct 46,XY,rob(14;21)(q10;q10),+21 Incorrect 46,XX,t(9;22)(q34;q11.2) Incorrect 46,XY/47,XY,+18 Incorrect 46,XX,rob(14;21)(q10;q10),+21 Incorrect MC

7b22_7b4f

A patient has findings consistent with Edwards syndrome. The condition is caused by trisomy 18. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 18. Which notation matches this? 46,XY/47,XY,+18 Correct 47,XX,+21 Incorrect 45,X/46,XY Incorrect 46,XY/47,XYY Incorrect 47,XY,+21 Incorrect MC

014f_fa49

A patient has findings consistent with DiGeorge syndrome. The condition is caused by microdeletion at 22q11.2. The karyotype is best summarized as: male with a deletion on chromosome 22q11.2. Which notation matches this? 47,XXY Incorrect 46,XY,dup(22)(q11.2) Incorrect 47,XY,+13 Incorrect 46,XY,del(22)(q11.2) Correct 47,XX,+21 Incorrect MC

5123_fd05

A patient has findings consistent with Patau syndrome. The condition is caused by trisomy 13. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with trisomy 13. Which notation matches this? 46,XX/47,XXX Incorrect 46,XX,t(9;22)(q34;q11.2) Incorrect 46,XY,rob(14;21)(q10;q10),+21 Incorrect 46,XX/47,XX,+13 Correct 46,XX,del(4)(p16.3) Incorrect MC

2887_5066

A patient has findings consistent with XYY syndrome. The condition is caused by extra Y chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XX,t(9;22)(q34;q11.2) Incorrect 47,XY,+13 Incorrect 46,XY,t(9;22)(q34;q11.2) Incorrect 46,XY/47,XY,+21 Incorrect 46,XY/47,XYY Correct MC

b720_a435

A patient has findings consistent with CML with Philadelphia chromosome. The condition is caused by reciprocal translocation between 9q34 and 22q11.2. The karyotype is best summarized as: male with reciprocal translocation between chromosomes 9 and 22 at q34 and q11.2. Which notation matches this? 46,XX/47,XX,+13 Incorrect 46,XY,t(9;22)(q11.2;q34) Incorrect 45,X/46,XX Incorrect 46,XY,rob(9;22)(q10;q10) Incorrect 46,XY,t(9;22)(q34;q11.2) Correct MC

d5fc_4fdc

A patient has findings consistent with Klinefelter syndrome. The condition is caused by extra X chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 47,XXY Incorrect 46,XY/47,XXY Correct 46,XY,rob(14;21)(q10;q10),+21 Incorrect 46,XY/47,XY,+13 Incorrect 47,XX,+18 Incorrect MC

b720_add2

A patient has findings consistent with CML with Philadelphia chromosome. The condition is caused by reciprocal translocation between 9q34 and 22q11.2. The karyotype is best summarized as: male with reciprocal translocation between chromosomes 9 and 22 at q34 and q11.2. Which notation matches this? 47,XX,+13 Incorrect 47,XY,+13 Incorrect 46,XY,t(9;22)(q34;q11.2) Correct 46,XX,rob(14;21)(q10;q10),+21 Incorrect 45,X Incorrect MC

213c_c7e2

A patient has findings consistent with Down syndrome due to Robertsonian translocation. The condition is caused by unbalanced Robertsonian translocation involving chromosome 21. The karyotype is best summarized as: female with Robertsonian translocation involving chromosomes 14 and 21 with trisomy 21. Which notation matches this? 47,XX,+18 Incorrect 46,XX,rob(14;21)(q10;q10),+21 Correct 47,XX,+13 Incorrect 47,XY,+21 Incorrect 46,XX,t(14;21)(q10;q10),+21 Incorrect MC

23f1_fd1e

A patient has findings consistent with Patau syndrome. The condition is caused by trisomy 13. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 13. Which notation matches this? 46,XX,del(5)(p15.2) Incorrect 46,XY/47,XY,+7 Incorrect 46,XY/47,XY,+13 Correct 45,X Incorrect 47,XXY Incorrect MC

4e21_2318

A patient has findings consistent with Down syndrome. The condition is caused by trisomy 21. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 21. Which notation matches this? 47,XX,+18 Incorrect 46,XY/47,XY,+21 Correct 47,XXX Incorrect 46,XX,del(5)(p15.2) Incorrect 46,XX/47,XX,+18 Incorrect MC

2887_bb99

A patient has findings consistent with XYY syndrome. The condition is caused by extra Y chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XY/47,XYY Correct 46,XX,t(9;22)(q34;q11.2) Incorrect 46,XY,rob(14;21)(q10;q10),+21 Incorrect 46,XY,del(4)(p16.3) Incorrect 47,XY,+21 Incorrect MC

9560_9ca3

A patient has findings consistent with Down syndrome due to Robertsonian translocation. The condition is caused by unbalanced Robertsonian translocation involving chromosome 21. The karyotype is best summarized as: male with Robertsonian translocation involving chromosomes 14 and 21 with trisomy 21. Which notation matches this? 46,XX/47,XXX Incorrect 47,XX,+21 Incorrect 45,X Incorrect 46,XY,rob(14;21)(q10;q10),+21 Correct 45,X/46,XX Incorrect MC

d5fc_0f5f

A patient has findings consistent with Klinefelter syndrome. The condition is caused by extra X chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 45,X/46,XX Incorrect 46,XY/47,XY,+18 Incorrect 45,X Incorrect 46,XY/47,XXY Correct 45,X/46,XY Incorrect MC

014f_c90f

A patient has findings consistent with DiGeorge syndrome. The condition is caused by microdeletion at 22q11.2. The karyotype is best summarized as: male with a deletion on chromosome 22q11.2. Which notation matches this? 45,X/46,XX Incorrect 46,XX,t(9;22)(q34;q11.2) Incorrect 47,XYY Incorrect 45,X Incorrect 46,XY,del(22)(q11.2) Correct MC

213c_a314

A patient has findings consistent with Down syndrome due to Robertsonian translocation. The condition is caused by unbalanced Robertsonian translocation involving chromosome 21. The karyotype is best summarized as: female with Robertsonian translocation involving chromosomes 14 and 21 with trisomy 21. Which notation matches this? 46,XX/47,XXX Incorrect 47,XX,+13 Incorrect 46,XX,rob(14;Y)(q10;q10),+21 Incorrect 46,XX,rob(14;21)(q10;q10),+21 Correct 46,XY/47,XYY Incorrect MC

4e21_784e

A patient has findings consistent with Down syndrome. The condition is caused by trisomy 21. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 21. Which notation matches this? 46,XY/47,XXY Incorrect 46,XY/47,XY,+13 Incorrect 46,XX/47,XX,+18 Incorrect 46,XY/47,XY,+21 Correct 47,XX,+13 Incorrect MC

bc7e_1a5b

A patient has findings consistent with CML with Philadelphia chromosome. The condition is caused by reciprocal translocation between 9q34 and 22q11.2. The karyotype is best summarized as: female with reciprocal translocation between chromosomes 9 and 22 at q34 and q11.2. Which notation matches this? 46,XY,t(9;22)(q34;q11.2) Incorrect 46,XX,t(9;22)(q11.2;q34) Incorrect 47,XYY Incorrect 45,X/46,XX Incorrect 46,XX,t(9;22)(q34;q11.2) Correct MC

4a9e_6758

A patient has findings consistent with DiGeorge syndrome. The condition is caused by microdeletion at 22q11.2. The karyotype is best summarized as: female with a deletion on chromosome 22q11.2. Which notation matches this? 47,XX,+21 Incorrect 46,XX,dup(22)(q11.2) Incorrect 47,XX,+13 Incorrect 46,XX,del(22)(q11.2) Correct 46,XY/47,XY,+18 Incorrect MC

d5fc_26e8

A patient has findings consistent with Klinefelter syndrome. The condition is caused by extra X chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 47,XX,+18 Incorrect 46,XY/47,XXY Correct 46,XY/47,XXX Incorrect 45,X/46,XX Incorrect 47,XXX Incorrect MC

014f_7a81

A patient has findings consistent with DiGeorge syndrome. The condition is caused by microdeletion at 22q11.2. The karyotype is best summarized as: male with a deletion on chromosome 22q11.2. Which notation matches this? 47,XY,+21 Incorrect 47,XX,+18 Incorrect 46,XY,del(22)(q11.2) Correct 47,XX,+13 Incorrect 47,XXY Incorrect MC

bf46_e403

A patient has findings consistent with Down syndrome. The condition is caused by trisomy 21. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with trisomy 21. Which notation matches this? 47,XXX Incorrect 47,XY,+21 Incorrect 46,XY,del(5)(p15.2) Incorrect 47,XY,+13 Incorrect 46,XX/47,XX,+21 Correct MC

014f_6aee

A patient has findings consistent with DiGeorge syndrome. The condition is caused by microdeletion at 22q11.2. The karyotype is best summarized as: male with a deletion on chromosome 22q11.2. Which notation matches this? 46,XY,dup(22)(q11.2) Incorrect 46,XY,del(22)(q11.2) Correct 47,XY,+13 Incorrect 45,X/46,XY Incorrect 47,XXY Incorrect MC

369c_f251

A patient has findings consistent with Edwards syndrome. The condition is caused by trisomy 18. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with trisomy 18. Which notation matches this? 47,XX,+18 Incorrect 46,XY/47,XXY Incorrect 45,X/46,XX Incorrect 46,XX/47,XX,+18 Correct 46,XY,del(4)(p16.3) Incorrect MC

c5e7_ad33

A patient has findings consistent with Triple X syndrome. The condition is caused by extra X chromosome in a female. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XY/47,XYY Incorrect 46,XY/47,XY,+21 Incorrect 46,XX/47,XX,+13 Incorrect 46,XX,t(9;22)(q34;q11.2) Incorrect 46,XX/47,XXX Correct MC

2887_ef96

A patient has findings consistent with XYY syndrome. The condition is caused by extra Y chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 45,X/46,XX Incorrect 46,XY/47,XYY Correct 45,X Incorrect 46,XX,del(22)(q11.2) Incorrect 46,XX/47,XX,+21 Incorrect MC

23f1_1df0

A patient has findings consistent with Patau syndrome. The condition is caused by trisomy 13. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 13. Which notation matches this? 47,XYY Incorrect 46,XY,rob(14;21)(q10;q10),+21 Incorrect 46,XX/47,XX,+18 Incorrect 47,XY,+21 Incorrect 46,XY/47,XY,+13 Correct MC

bc7e_5161

A patient has findings consistent with CML with Philadelphia chromosome. The condition is caused by reciprocal translocation between 9q34 and 22q11.2. The karyotype is best summarized as: female with reciprocal translocation between chromosomes 9 and 22 at q34 and q11.2. Which notation matches this? 46,XX/47,XX,+13 Incorrect 45,X/46,XY Incorrect 46,XX,t(9;22)(q34;q11.2) Correct 46,XY/47,XY,+21 Incorrect 47,XX,+13 Incorrect MC

b205_fa5e

A patient has findings consistent with Cri-du-chat syndrome. The condition is caused by deletion of 5p. The karyotype is best summarized as: male with a deletion on chromosome 5p15.2. Which notation matches this? 47,XX,+21 Incorrect 47,XXX Incorrect 47,XYY Incorrect 46,XY,del(5)(p15.2) Correct 46,XX,t(9;22)(q34;q11.2) Incorrect MC

bc7e_063f

A patient has findings consistent with CML with Philadelphia chromosome. The condition is caused by reciprocal translocation between 9q34 and 22q11.2. The karyotype is best summarized as: female with reciprocal translocation between chromosomes 9 and 22 at q34 and q11.2. Which notation matches this? 47,XX,+21 Incorrect 46,XX,t(9;22)(q34;q11.2) Correct 47,XY,+21 Incorrect 46,XX,del(4)(p16.3) Incorrect 47,XXY Incorrect MC

d5fc_1013

A patient has findings consistent with Klinefelter syndrome. The condition is caused by extra X chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 47,XY,+18 Incorrect 47,XX,+13 Incorrect 47,XXY Incorrect 46,XY/47,XY,+13 Incorrect 46,XY/47,XXY Correct MC

0e48_9002

A patient has findings consistent with Wolf-Hirschhorn syndrome. The condition is caused by deletion of 4p. The karyotype is best summarized as: male with a deletion on chromosome 4p16.3. Which notation matches this? 46,XY/47,XY,+18 Incorrect 46,XX/47,XXX Incorrect 46,XY/47,XY,+21 Incorrect 46,XY,del(4)(p16.3) Correct 47,XXX Incorrect MC

5123_f976

A patient has findings consistent with Patau syndrome. The condition is caused by trisomy 13. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with trisomy 13. Which notation matches this? 45,X/46,XX Incorrect 46,XX/47,XX,+13 Correct 47,XXY Incorrect 46,XX/47,XY,+13 Incorrect 46,XX/47,XX,+21 Incorrect MC

c5e7_7549

A patient has findings consistent with Triple X syndrome. The condition is caused by extra X chromosome in a female. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 45,X/46,XX Incorrect 47,XX,+18 Incorrect 47,XXX Incorrect 46,XX/47,XXX Correct 47,XXY Incorrect MC

7b22_8c53

A patient has findings consistent with Edwards syndrome. The condition is caused by trisomy 18. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 18. Which notation matches this? 47,XXX Incorrect 47,XYY Incorrect 46,XY/47,XY,+13 Incorrect 47,XX,+21 Incorrect 46,XY/47,XY,+18 Correct MC

c5e7_6d89

A patient has findings consistent with Triple X syndrome. The condition is caused by extra X chromosome in a female. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XY,del(5)(p15.2) Incorrect 47,XX,+18 Incorrect 46,XX,t(9;22)(q34;q11.2) Incorrect 46,XY,t(9;22)(q34;q11.2) Incorrect 46,XX/47,XXX Correct MC

9560_227e

A patient has findings consistent with Down syndrome due to Robertsonian translocation. The condition is caused by unbalanced Robertsonian translocation involving chromosome 21. The karyotype is best summarized as: male with Robertsonian translocation involving chromosomes 14 and 21 with trisomy 21. Which notation matches this? 46,XY,rob(14;21)(q10;q10),+21 Correct 45,X/46,XX Incorrect 46,XY,del(22)(q11.2) Incorrect 46,XX,t(9;22)(q34;q11.2) Incorrect 45,X Incorrect MC

369c_8397

A patient has findings consistent with Edwards syndrome. The condition is caused by trisomy 18. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with trisomy 18. Which notation matches this? 46,XX,del(22)(q11.2) Incorrect 46,XX,del(5)(p15.2) Incorrect 47,XX,+13 Incorrect 46,XX/47,XX,+13 Incorrect 46,XX/47,XX,+18 Correct MC

0e48_dc38

A patient has findings consistent with Wolf-Hirschhorn syndrome. The condition is caused by deletion of 4p. The karyotype is best summarized as: male with a deletion on chromosome 4p16.3. Which notation matches this? 46,XX/47,XX,+21 Incorrect 46,XY,del(4)(p16.3) Correct 45,X Incorrect 46,XY,del(4)(p16.1) Incorrect 46,XX,del(22)(q11.2) Incorrect MC

23f1_3445

A patient has findings consistent with Patau syndrome. The condition is caused by trisomy 13. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 13. Which notation matches this? 47,XY,+18 Incorrect 46,XY/47,XY,+13 Correct 45,X/46,XX Incorrect 47,XXX Incorrect 46,XX,t(9;22)(q34;q11.2) Incorrect MC

2887_2cea

A patient has findings consistent with XYY syndrome. The condition is caused by extra Y chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XY/47,XY,+13 Incorrect 46,XX/47,XX,+13 Incorrect 46,XY,del(5)(p15.2) Incorrect 46,XY/47,XYY Correct 45,X/46,XX Incorrect MC

4607_2c39

A patient has findings consistent with Cri-du-chat syndrome. The condition is caused by deletion of 5p. The karyotype is best summarized as: female with a deletion on chromosome 5p15.2. Which notation matches this? 46,XX,del(5)(p15.2) Correct 46,XY/47,XY,+18 Incorrect 45,X/46,XY Incorrect 46,XY,del(4)(p16.3) Incorrect 46,XY,del(5)(p15.2) Incorrect MC

b205_6fa1

A patient has findings consistent with Cri-du-chat syndrome. The condition is caused by deletion of 5p. The karyotype is best summarized as: male with a deletion on chromosome 5p15.2. Which notation matches this? 46,XY,del(5)(p15.2) Correct 47,XY,+13 Incorrect 46,XY/47,XYY Incorrect 46,XY,del(22)(q11.2) Incorrect 47,XY,+21 Incorrect MC

e92c_3058

A patient has findings consistent with Turner syndrome. The condition is caused by monosomy X or X mosaicism. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 45,X/46,XX Correct 45,X/46,XY Incorrect 46,XY,del(5)(p15.2) Incorrect 46,XY/47,XY,+18 Incorrect 47,XXY Incorrect MC

4e21_20dd

A patient has findings consistent with Down syndrome. The condition is caused by trisomy 21. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 21. Which notation matches this? 46,XY/47,XXY Incorrect 47,XX,+18 Incorrect 47,XX,+13 Incorrect 46,XY,del(4)(p16.3) Incorrect 46,XY/47,XY,+21 Correct MC

4a9e_8f57

A patient has findings consistent with DiGeorge syndrome. The condition is caused by microdeletion at 22q11.2. The karyotype is best summarized as: female with a deletion on chromosome 22q11.2. Which notation matches this? 46,XX,del(22)(p11.2) Incorrect 46,XY,rob(14;21)(q10;q10),+21 Incorrect 46,XY,t(9;22)(q34;q11.2) Incorrect 46,XY/47,XY,+21 Incorrect 46,XX,del(22)(q11.2) Correct MC

e92c_c588

A patient has findings consistent with Turner syndrome. The condition is caused by monosomy X or X mosaicism. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XY/47,XYY Incorrect 45,XX/46,XY Incorrect 46,XX,del(5)(p15.2) Incorrect 45,X/46,XY Correct 46,XY,t(9;22)(q34;q11.2) Incorrect MC

c5e7_f0d6

A patient has findings consistent with Triple X syndrome. The condition is caused by extra X chromosome in a female. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XY/47,XY,+13 Incorrect 47,XXX Incorrect 47,XX,+21 Incorrect 46,XX/47,XXX Correct 46,XY,del(5)(p15.2) Incorrect MC

bc7e_14f2

A patient has findings consistent with CML with Philadelphia chromosome. The condition is caused by reciprocal translocation between 9q34 and 22q11.2. The karyotype is best summarized as: female with reciprocal translocation between chromosomes 9 and 22 at q34 and q11.2. Which notation matches this? 46,XY,del(4)(p16.3) Incorrect 45,X/46,XY Incorrect 46,XX,t(9;22)(q34;q11.2) Correct 46,XX/47,XXX Incorrect 46,XY/47,XYY Incorrect MC

653b_f110

A patient has findings consistent with Wolf-Hirschhorn syndrome. The condition is caused by deletion of 4p. The karyotype is best summarized as: female with a deletion on chromosome 4p16.3. Which notation matches this? 46,XX/47,XX,+18 Incorrect 46,XY/47,XYY Incorrect 46,XX,del(4)(p16.3) Correct 46,XX,rob(14;21)(q10;q10),+21 Incorrect 46,XX/47,XX,+21 Incorrect MC

2887_1fe6

A patient has findings consistent with XYY syndrome. The condition is caused by extra Y chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XY,del(5)(p15.2) Incorrect 46,XX,rob(14;21)(q10;q10),+21 Incorrect 47,XX,+21 Incorrect 46,XY/47,XYY Correct 47,XX,+13 Incorrect MC

7b22_cda1

A patient has findings consistent with Edwards syndrome. The condition is caused by trisomy 18. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 18. Which notation matches this? 47,XY,+18 Incorrect 46,XY,del(4)(p16.3) Incorrect 46,XX,rob(14;21)(q10;q10),+21 Incorrect 46,XX,del(4)(p16.3) Incorrect 46,XY/47,XY,+18 Correct MC

7b22_0dbb

A patient has findings consistent with Edwards syndrome. The condition is caused by trisomy 18. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 18. Which notation matches this? 46,XX,rob(14;21)(q10;q10),+21 Incorrect 46,XY,del(22)(q11.2) Incorrect 46,XY/47,XY,+18 Correct 46,XY/47,XY,+10 Incorrect 46,XX,t(9;22)(q34;q11.2) Incorrect MC

e92c_622c

A patient has findings consistent with Turner syndrome. The condition is caused by monosomy X or X mosaicism. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 45,X/46,XX Incorrect 46,XY,del(5)(p15.2) Incorrect 46,XX/47,XX,+21 Incorrect 45,XX/46,XY Incorrect 45,X/46,XY Correct MC

23f1_cdfb

A patient has findings consistent with Patau syndrome. The condition is caused by trisomy 13. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 13. Which notation matches this? 46,XX,del(4)(p16.3) Incorrect 46,XY/47,XYY Incorrect 46,XY,del(5)(p15.2) Incorrect 46,XX,del(5)(p15.2) Incorrect 46,XY/47,XY,+13 Correct MC

b205_9d81

A patient has findings consistent with Cri-du-chat syndrome. The condition is caused by deletion of 5p. The karyotype is best summarized as: male with a deletion on chromosome 5p15.2. Which notation matches this? 46,XX,del(22)(q11.2) Incorrect 46,XX,rob(14;21)(q10;q10),+21 Incorrect 47,XY,+21 Incorrect 46,XY,del(5)(p15.2) Correct 46,XY,del(22)(q11.2) Incorrect MC

e92c_52c9

A patient has findings consistent with Turner syndrome. The condition is caused by monosomy X or X mosaicism. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XX/47,XX,+21 Incorrect 46,XY/47,XYY Incorrect 47,XXY Incorrect 45,X/46,XY Correct 47,XX,+18 Incorrect MC

bf46_f44d

A patient has findings consistent with Down syndrome. The condition is caused by trisomy 21. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with trisomy 21. Which notation matches this? 47,XX,+21 Incorrect 45,X/46,XY Incorrect 46,XX/47,XX,+21 Correct 47,XXY Incorrect 46,XY,del(4)(p16.3) Incorrect MC

b720_1d40

A patient has findings consistent with CML with Philadelphia chromosome. The condition is caused by reciprocal translocation between 9q34 and 22q11.2. The karyotype is best summarized as: male with reciprocal translocation between chromosomes 9 and 22 at q34 and q11.2. Which notation matches this? 45,X/46,XX Incorrect 46,XY,t(9;1)(q34;q11.2) Incorrect 47,XYY Incorrect 46,XY,t(9;22)(q34;q11.2) Correct 46,XY/47,XY,+13 Incorrect MC

9560_8cca

A patient has findings consistent with Down syndrome due to Robertsonian translocation. The condition is caused by unbalanced Robertsonian translocation involving chromosome 21. The karyotype is best summarized as: male with Robertsonian translocation involving chromosomes 14 and 21 with trisomy 21. Which notation matches this? 47,XY,+13 Incorrect 46,XX/47,XX,+13 Incorrect 46,XY,rob(14;21)(q10;q10),+21 Correct 47,XX,+13 Incorrect 46,XY,t(9;22)(q34;q11.2) Incorrect MC

c5e7_b7ce

A patient has findings consistent with Triple X syndrome. The condition is caused by extra X chromosome in a female. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 47,XY,+21 Incorrect 46,XY/47,XY,+21 Incorrect 46,XX/47,XXX Correct 47,XXX Incorrect 46,XX/47,XX,+13 Incorrect MC

c5e7_63a0

A patient has findings consistent with Triple X syndrome. The condition is caused by extra X chromosome in a female. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 45,X Incorrect 46,XY,rob(14;21)(q10;q10),+21 Incorrect 46,XX/47,XXX Correct 47,XXX Incorrect 46,XX/47,XX,+13 Incorrect MC

4e21_2a78

A patient has findings consistent with Down syndrome. The condition is caused by trisomy 21. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 21. Which notation matches this? 47,XX,+13 Incorrect 46,XX,rob(14;21)(q10;q10),+21 Incorrect 46,XX/47,XX,+13 Incorrect 46,XY/47,XY,+21 Correct 47,XX,+21 Incorrect MC

7b22_c449

A patient has findings consistent with Edwards syndrome. The condition is caused by trisomy 18. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 18. Which notation matches this? 46,XY/47,XY,+18 Correct 45,X/46,XX Incorrect 46,XY,rob(14;21)(q10;q10),+21 Incorrect 46,XX/47,XX,+13 Incorrect 46,XX,del(22)(q11.2) Incorrect MC

d5fc_0934

A patient has findings consistent with Klinefelter syndrome. The condition is caused by extra X chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XX/47,XXX Incorrect 46,XX/47,XX,+13 Incorrect 46,XY/47,XXY Correct 46,XY,del(4)(p16.3) Incorrect 46,XX,t(9;22)(q34;q11.2) Incorrect MC

014f_ef16

A patient has findings consistent with DiGeorge syndrome. The condition is caused by microdeletion at 22q11.2. The karyotype is best summarized as: male with a deletion on chromosome 22q11.2. Which notation matches this? 47,XXY Incorrect 46,XY,dup(22)(q11.2) Incorrect 46,XY,del(22)(q11.2) Correct 47,XX,+21 Incorrect 46,XX/47,XX,+21 Incorrect MC

7b22_4d4a

A patient has findings consistent with Edwards syndrome. The condition is caused by trisomy 18. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 18. Which notation matches this? 46,XY/47,XY,+13 Incorrect 46,XY/47,XY,+18 Correct 46,XY/47,XY,+21 Incorrect 46,XY/47,XYY Incorrect 46,XX,del(5)(p15.2) Incorrect MC

bc7e_17de

A patient has findings consistent with CML with Philadelphia chromosome. The condition is caused by reciprocal translocation between 9q34 and 22q11.2. The karyotype is best summarized as: female with reciprocal translocation between chromosomes 9 and 22 at q34 and q11.2. Which notation matches this? 46,XX/47,XXX Incorrect 46,XY/47,XY,+13 Incorrect 46,XY,rob(14;21)(q10;q10),+21 Incorrect 47,XX,+21 Incorrect 46,XX,t(9;22)(q34;q11.2) Correct MC

e92c_fa85

A patient has findings consistent with Turner syndrome. The condition is caused by monosomy X or X mosaicism. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XY,del(5)(p15.2) Incorrect 46,XX,del(22)(q11.2) Incorrect 46,XX,t(9;22)(q34;q11.2) Incorrect 46,XX,del(5)(p15.2) Incorrect 45,X/46,XX Correct MC

653b_32fb

A patient has findings consistent with Wolf-Hirschhorn syndrome. The condition is caused by deletion of 4p. The karyotype is best summarized as: female with a deletion on chromosome 4p16.3. Which notation matches this? 46,XX,del(4)(q16.3) Incorrect 45,X Incorrect 46,XX,del(4)(p16.3) Correct 46,XY/47,XY,+21 Incorrect 46,XX/47,XX,+18 Incorrect MC

0e48_e10e

A patient has findings consistent with Wolf-Hirschhorn syndrome. The condition is caused by deletion of 4p. The karyotype is best summarized as: male with a deletion on chromosome 4p16.3. Which notation matches this? 47,XX,+13 Incorrect 46,XY,del(22)(q11.2) Incorrect 45,X/46,XY Incorrect 46,XY,del(4)(p16.3) Correct 46,XX/47,XXX Incorrect MC

d5fc_6f94

A patient has findings consistent with Klinefelter syndrome. The condition is caused by extra X chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 47,XY,+18 Incorrect 46,XY,rob(14;21)(q10;q10),+21 Incorrect 46,XX,del(4)(p16.3) Incorrect 46,XY,del(22)(q11.2) Incorrect 46,XY/47,XXY Correct MC

c5e7_6c1e

A patient has findings consistent with Triple X syndrome. The condition is caused by extra X chromosome in a female. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XX/47,XXX Correct 47,XX,+21 Incorrect 47,XXX Incorrect 46,XX/47,XX,+13 Incorrect 47,XY,+18 Incorrect MC

b205_b7a3

A patient has findings consistent with Cri-du-chat syndrome. The condition is caused by deletion of 5p. The karyotype is best summarized as: male with a deletion on chromosome 5p15.2. Which notation matches this? 46,XY,del(5)(p15.2) Correct 47,XY,+13 Incorrect 46,XY/47,XXY Incorrect 46,XY,del(4)(p16.3) Incorrect 46,XX,del(5)(p15.2) Incorrect MC

d5fc_2f35

A patient has findings consistent with Klinefelter syndrome. The condition is caused by extra X chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XY/47,XXY Correct 46,XX/47,XX,+21 Incorrect 46,XY/47,XY,+18 Incorrect 46,XX/47,XXX Incorrect 45,X Incorrect MC

b720_7dee

A patient has findings consistent with CML with Philadelphia chromosome. The condition is caused by reciprocal translocation between 9q34 and 22q11.2. The karyotype is best summarized as: male with reciprocal translocation between chromosomes 9 and 22 at q34 and q11.2. Which notation matches this? 46,XX,t(9;22)(q34;q11.2) Incorrect 46,XY,del(4)(p16.3) Incorrect 46,XY/47,XYY Incorrect 46,XY,t(9;22)(q34;q11.2) Correct 47,XX,+13 Incorrect MC

213c_f931

A patient has findings consistent with Down syndrome due to Robertsonian translocation. The condition is caused by unbalanced Robertsonian translocation involving chromosome 21. The karyotype is best summarized as: female with Robertsonian translocation involving chromosomes 14 and 21 with trisomy 21. Which notation matches this? 46,XX,rob(14;21)(q10;q10),+21 Correct 45,X/46,XY Incorrect 46,XY,t(9;22)(q34;q11.2) Incorrect 47,XXY Incorrect 46,XY,del(4)(p16.3) Incorrect MC

4e21_a7cb

A patient has findings consistent with Down syndrome. The condition is caused by trisomy 21. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 21. Which notation matches this? 47,XX,+21 Incorrect 46,XY/47,XY,+21 Correct 46,XX/47,XX,+18 Incorrect 47,XXX Incorrect 47,XY,+13 Incorrect MC

4a9e_3640

A patient has findings consistent with DiGeorge syndrome. The condition is caused by microdeletion at 22q11.2. The karyotype is best summarized as: female with a deletion on chromosome 22q11.2. Which notation matches this? 46,XY,t(9;22)(q34;q11.2) Incorrect 46,XY/47,XY,+13 Incorrect 46,XY/47,XY,+21 Incorrect 46,XX,del(22)(q11.2) Correct 46,XX,del(4)(p16.3) Incorrect MC

23f1_5503

A patient has findings consistent with Patau syndrome. The condition is caused by trisomy 13. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 13. Which notation matches this? 46,XX/47,XX,+13 Incorrect 46,XX,del(22)(q11.2) Incorrect 46,XY,del(5)(p15.2) Incorrect 46,XX/47,XX,+21 Incorrect 46,XY/47,XY,+13 Correct MC

9560_6fec

A patient has findings consistent with Down syndrome due to Robertsonian translocation. The condition is caused by unbalanced Robertsonian translocation involving chromosome 21. The karyotype is best summarized as: male with Robertsonian translocation involving chromosomes 14 and 21 with trisomy 21. Which notation matches this? 47,XY,+21 Incorrect 46,XY,rob(14;21)(q10;q10),+21 Correct 46,XX,del(22)(q11.2) Incorrect 46,XX,del(4)(p16.3) Incorrect 46,XY,del(5)(p15.2) Incorrect MC

0e48_bb78

A patient has findings consistent with Wolf-Hirschhorn syndrome. The condition is caused by deletion of 4p. The karyotype is best summarized as: male with a deletion on chromosome 4p16.3. Which notation matches this? 46,XY,del(4)(p16.3) Correct 46,XY,del(22)(q11.2) Incorrect 47,XXX Incorrect 46,XY,del(4)(q16.3) Incorrect 47,XY,+21 Incorrect MC

b720_8346

A patient has findings consistent with CML with Philadelphia chromosome. The condition is caused by reciprocal translocation between 9q34 and 22q11.2. The karyotype is best summarized as: male with reciprocal translocation between chromosomes 9 and 22 at q34 and q11.2. Which notation matches this? 46,XX/47,XX,+18 Incorrect 47,XY,+21 Incorrect 46,XY/47,XY,+18 Incorrect 46,XY,t(9;22)(q34;q11.2) Correct 46,XX,del(5)(p15.2) Incorrect MC

d5fc_dac9

A patient has findings consistent with Klinefelter syndrome. The condition is caused by extra X chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 47,XXX Incorrect 46,XX,del(4)(p16.3) Incorrect 45,X/46,XX Incorrect 46,XY/47,XXY Correct 47,XY,+18 Incorrect MC

213c_884b

A patient has findings consistent with Down syndrome due to Robertsonian translocation. The condition is caused by unbalanced Robertsonian translocation involving chromosome 21. The karyotype is best summarized as: female with Robertsonian translocation involving chromosomes 14 and 21 with trisomy 21. Which notation matches this? 46,XX,rob(14;21)(q10;q10),+21 Correct 46,XY,t(9;22)(q34;q11.2) Incorrect 46,XY,del(22)(q11.2) Incorrect 46,XY/47,XY,+18 Incorrect 46,XY/47,XYY Incorrect MC

0e48_317e

A patient has findings consistent with Wolf-Hirschhorn syndrome. The condition is caused by deletion of 4p. The karyotype is best summarized as: male with a deletion on chromosome 4p16.3. Which notation matches this? 46,XY,del(4)(p16.3) Correct 46,XX,del(22)(q11.2) Incorrect 46,XY,dup(4)(p16.3) Incorrect 46,XY/47,XY,+13 Incorrect 46,XY,rob(14;21)(q10;q10),+21 Incorrect MC

23f1_9a84

A patient has findings consistent with Patau syndrome. The condition is caused by trisomy 13. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 13. Which notation matches this? 46,XY,del(5)(p15.2) Incorrect 46,XX,t(9;22)(q34;q11.2) Incorrect 46,XY/47,XY,+13 Correct 46,XY,del(4)(p16.3) Incorrect 46,XX,del(22)(q11.2) Incorrect MC

2887_0201

A patient has findings consistent with XYY syndrome. The condition is caused by extra Y chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XX,del(4)(p16.3) Incorrect 47,XX,+13 Incorrect 46,XY/47,XYY Correct 46,XX,rob(14;21)(q10;q10),+21 Incorrect 46,XY/47,XXY Incorrect MC

4607_c00b

A patient has findings consistent with Cri-du-chat syndrome. The condition is caused by deletion of 5p. The karyotype is best summarized as: female with a deletion on chromosome 5p15.2. Which notation matches this? 46,XX,del(5)(p15.2) Correct 46,XX,dup(5)(p15.2) Incorrect 46,XX/47,XX,+21 Incorrect 46,XY/47,XYY Incorrect 47,XX,+21 Incorrect MC

c5e7_8645

A patient has findings consistent with Triple X syndrome. The condition is caused by extra X chromosome in a female. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XY/47,XYY Incorrect 46,XX,del(5)(p15.2) Incorrect 46,XX/47,XXX Correct 47,XY,+18 Incorrect 46,XY/47,XY,+21 Incorrect MC

4a9e_cc07

A patient has findings consistent with DiGeorge syndrome. The condition is caused by microdeletion at 22q11.2. The karyotype is best summarized as: female with a deletion on chromosome 22q11.2. Which notation matches this? 46,XX/47,XX,+18 Incorrect 47,XYY Incorrect 45,X Incorrect 46,XX,del(22)(q11.2) Correct 47,XXX Incorrect MC

b720_22af

A patient has findings consistent with CML with Philadelphia chromosome. The condition is caused by reciprocal translocation between 9q34 and 22q11.2. The karyotype is best summarized as: male with reciprocal translocation between chromosomes 9 and 22 at q34 and q11.2. Which notation matches this? 47,XX,+18 Incorrect 46,XY,t(9;22)(q34;q11.2) Correct 46,XY,t(9;22)(q11.2;q34) Incorrect 47,XY,+21 Incorrect 46,XX,del(5)(p15.2) Incorrect MC

0e48_e7b6

A patient has findings consistent with Wolf-Hirschhorn syndrome. The condition is caused by deletion of 4p. The karyotype is best summarized as: male with a deletion on chromosome 4p16.3. Which notation matches this? 46,XY,del(4)(p16.3) Correct 47,XX,+13 Incorrect 45,X/46,XX Incorrect 46,XY,dup(4)(p16.3) Incorrect 46,XY/47,XYY Incorrect MC

653b_b886

A patient has findings consistent with Wolf-Hirschhorn syndrome. The condition is caused by deletion of 4p. The karyotype is best summarized as: female with a deletion on chromosome 4p16.3. Which notation matches this? 46,XX,del(4)(p16.3) Correct 47,XX,+21 Incorrect 46,XX/47,XX,+13 Incorrect 45,X Incorrect 46,XX,del(22)(q11.2) Incorrect MC

653b_4ec8

A patient has findings consistent with Wolf-Hirschhorn syndrome. The condition is caused by deletion of 4p. The karyotype is best summarized as: female with a deletion on chromosome 4p16.3. Which notation matches this? 46,XY,del(22)(q11.2) Incorrect 47,XXY Incorrect 46,XX/47,XX,+21 Incorrect 46,XX,del(4)(p16.3) Correct 47,XX,+18 Incorrect MC

d5fc_ca0c

A patient has findings consistent with Klinefelter syndrome. The condition is caused by extra X chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XX,del(22)(q11.2) Incorrect 46,XY/47,XXY Correct 46,XX/47,XX,+13 Incorrect 46,XY,del(4)(p16.3) Incorrect 47,XX,+21 Incorrect MC

213c_2ca1

A patient has findings consistent with Down syndrome due to Robertsonian translocation. The condition is caused by unbalanced Robertsonian translocation involving chromosome 21. The karyotype is best summarized as: female with Robertsonian translocation involving chromosomes 14 and 21 with trisomy 21. Which notation matches this? 46,XX,rob(14;21)(q10;q10),+21 Correct 47,XX,+21 Incorrect 46,XX/47,XXX Incorrect 46,XY,t(9;22)(q34;q11.2) Incorrect 46,XX,t(14;21)(q10;q10),+21 Incorrect MC

c5e7_6dcd

A patient has findings consistent with Triple X syndrome. The condition is caused by extra X chromosome in a female. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XY,del(22)(q11.2) Incorrect 46,XY/47,XXY Incorrect 46,XX/47,XXX Correct 47,XX,+21 Incorrect 47,XXX Incorrect MC

e92c_4469

A patient has findings consistent with Turner syndrome. The condition is caused by monosomy X or X mosaicism. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 47,XXY Incorrect 46,XX/47,XX,+21 Incorrect 47,XX,+18 Incorrect 45,X/46,XY Correct 45,X Incorrect MC

7b22_fb05

A patient has findings consistent with Edwards syndrome. The condition is caused by trisomy 18. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 18. Which notation matches this? 46,XX,del(4)(p16.3) Incorrect 46,XY/47,XY,+18 Correct 45,X/46,XX Incorrect 46,XY/47,XXY Incorrect 46,XY/47,XY,+15 Incorrect MC

0e48_14e9

A patient has findings consistent with Wolf-Hirschhorn syndrome. The condition is caused by deletion of 4p. The karyotype is best summarized as: male with a deletion on chromosome 4p16.3. Which notation matches this? 46,XY,del(4)(p16.3) Correct 46,XX,rob(14;21)(q10;q10),+21 Incorrect 47,XX,+18 Incorrect 45,X Incorrect 46,XX/47,XXX Incorrect MC

b720_1a3f

A patient has findings consistent with CML with Philadelphia chromosome. The condition is caused by reciprocal translocation between 9q34 and 22q11.2. The karyotype is best summarized as: male with reciprocal translocation between chromosomes 9 and 22 at q34 and q11.2. Which notation matches this? 46,XY/47,XY,+21 Incorrect 46,XY/47,XY,+18 Incorrect 46,XY,del(4)(p16.3) Incorrect 46,XY,t(9;22)(q34;q11.2) Correct 47,XXY Incorrect MC

b720_1030

A patient has findings consistent with CML with Philadelphia chromosome. The condition is caused by reciprocal translocation between 9q34 and 22q11.2. The karyotype is best summarized as: male with reciprocal translocation between chromosomes 9 and 22 at q34 and q11.2. Which notation matches this? 46,XY,t(9;22)(q34;q11.2) Correct 46,XY/47,XY,+13 Incorrect 45,X/46,XY Incorrect 46,XX,del(22)(q11.2) Incorrect 46,XY/47,XY,+18 Incorrect MC

c5e7_9cd5

A patient has findings consistent with Triple X syndrome. The condition is caused by extra X chromosome in a female. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XY/47,XY,+13 Incorrect 46,XX/47,XXX Correct 46,XY/47,XYY Incorrect 47,XXX Incorrect 46,XY,del(5)(p15.2) Incorrect MC

c5e7_9164

A patient has findings consistent with Triple X syndrome. The condition is caused by extra X chromosome in a female. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XY,rob(14;21)(q10;q10),+21 Incorrect 46,XX/47,XX,+18 Incorrect 46,XX,del(22)(q11.2) Incorrect 46,XX/47,XXX Correct 46,XY/47,XY,+21 Incorrect MC

d5fc_66c8

A patient has findings consistent with Klinefelter syndrome. The condition is caused by extra X chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XX/47,XX,+13 Incorrect 46,XY/47,XXY Correct 45,X Incorrect 47,XY,+13 Incorrect 46,XX/47,XX,+21 Incorrect MC

7b22_5e0b

A patient has findings consistent with Edwards syndrome. The condition is caused by trisomy 18. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 18. Which notation matches this? 46,XY/47,XY,+18 Correct 45,X/46,XX Incorrect 46,XX/47,XX,+21 Incorrect 46,XY,t(9;22)(q34;q11.2) Incorrect 47,XY,+13 Incorrect MC

2887_d7db

A patient has findings consistent with XYY syndrome. The condition is caused by extra Y chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XY/47,XY,+13 Incorrect 46,XY/47,XYY Correct 45,X/46,XX Incorrect 45,X Incorrect 45,X/46,XY Incorrect MC

e92c_9f65

A patient has findings consistent with Turner syndrome. The condition is caused by monosomy X or X mosaicism. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XX,del(5)(p15.2) Incorrect 46,XY/47,XY,+18 Incorrect 46,XX,rob(14;21)(q10;q10),+21 Incorrect 47,XX,+21 Incorrect 45,X/46,XY Correct MC

4a9e_9158

A patient has findings consistent with DiGeorge syndrome. The condition is caused by microdeletion at 22q11.2. The karyotype is best summarized as: female with a deletion on chromosome 22q11.2. Which notation matches this? 47,XX,+13 Incorrect 46,XX,del(22)(q11.2) Correct 46,XX/47,XX,+21 Incorrect 46,XY/47,XY,+13 Incorrect 46,XY/47,XY,+21 Incorrect MC

7b22_82a6

A patient has findings consistent with Edwards syndrome. The condition is caused by trisomy 18. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 18. Which notation matches this? 46,XX/47,XXX Incorrect 46,XY/47,XY,+18 Correct 46,XY,del(5)(p15.2) Incorrect 46,XY/47,XY,+13 Incorrect 46,XY/47,XX,+18 Incorrect MC

2887_9c5e

A patient has findings consistent with XYY syndrome. The condition is caused by extra Y chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XY/47,XYY Correct 47,XXY Incorrect 46,XX/47,XX,+18 Incorrect 45,X/46,XY Incorrect 46,XY,del(22)(q11.2) Incorrect MC

9560_965b

A patient has findings consistent with Down syndrome due to Robertsonian translocation. The condition is caused by unbalanced Robertsonian translocation involving chromosome 21. The karyotype is best summarized as: male with Robertsonian translocation involving chromosomes 14 and 21 with trisomy 21. Which notation matches this? 46,XY/47,XYY Incorrect 47,XX,+13 Incorrect 47,XX,+21 Incorrect 46,XY,del(5)(p15.2) Incorrect 46,XY,rob(14;21)(q10;q10),+21 Correct MC

c5e7_51ba

A patient has findings consistent with Triple X syndrome. The condition is caused by extra X chromosome in a female. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 47,XXX Incorrect 46,XX/47,XXY Incorrect 46,XX,del(22)(q11.2) Incorrect 46,XY/47,XYY Incorrect 46,XX/47,XXX Correct MC

2887_13dd

A patient has findings consistent with XYY syndrome. The condition is caused by extra Y chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XX,del(22)(q11.2) Incorrect 46,XX/47,XX,+21 Incorrect 46,XY/47,XYY Correct 46,XX/47,XXX Incorrect 47,XY,+13 Incorrect MC

4a9e_8453

A patient has findings consistent with DiGeorge syndrome. The condition is caused by microdeletion at 22q11.2. The karyotype is best summarized as: female with a deletion on chromosome 22q11.2. Which notation matches this? 46,XX/47,XX,+13 Incorrect 45,X/46,XX Incorrect 46,XX,del(22)(q11.2) Correct 46,XX/47,XX,+18 Incorrect 46,XY,del(4)(p16.3) Incorrect MC

bf46_ccde

A patient has findings consistent with Down syndrome. The condition is caused by trisomy 21. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with trisomy 21. Which notation matches this? 46,XY/47,XY,+21 Incorrect 47,XY,+18 Incorrect 46,XX/47,XX,+21 Correct 46,XX,t(9;22)(q34;q11.2) Incorrect 46,XY,rob(14;21)(q10;q10),+21 Incorrect MC

23f1_f619

A patient has findings consistent with Patau syndrome. The condition is caused by trisomy 13. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 13. Which notation matches this? 45,X Incorrect 46,XY/47,XY,+13 Correct 45,X/46,XY Incorrect 47,XX,+13 Incorrect 46,XY,del(5)(p15.2) Incorrect MC

c5e7_493e

A patient has findings consistent with Triple X syndrome. The condition is caused by extra X chromosome in a female. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XY/47,XY,+21 Incorrect 47,XYY Incorrect 46,XX,rob(14;21)(q10;q10),+21 Incorrect 46,XY/47,XY,+18 Incorrect 46,XX/47,XXX Correct MC

23f1_f034

A patient has findings consistent with Patau syndrome. The condition is caused by trisomy 13. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 13. Which notation matches this? 46,XX/47,XX,+21 Incorrect 47,XYY Incorrect 46,XY/47,XX,+13 Incorrect 45,X/46,XY Incorrect 46,XY/47,XY,+13 Correct MC

d5fc_37c2

A patient has findings consistent with Klinefelter syndrome. The condition is caused by extra X chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XY/47,XXY Correct 47,XXX Incorrect 46,XX,del(22)(q11.2) Incorrect 46,XY/47,XY,+18 Incorrect 46,XX,del(4)(p16.3) Incorrect MC

e92c_9d50

A patient has findings consistent with Turner syndrome. The condition is caused by monosomy X or X mosaicism. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XY/47,XY,+18 Incorrect 46,XY,del(5)(p15.2) Incorrect 47,XX,+21 Incorrect 45,X/46,XY Correct 47,XY,+21 Incorrect MC

d5fc_961b

A patient has findings consistent with Klinefelter syndrome. The condition is caused by extra X chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XY/47,XXY Correct 46,XX,del(5)(p15.2) Incorrect 46,XX/47,XX,+18 Incorrect 46,XY/47,XY,+18 Incorrect 46,XX/47,XX,+13 Incorrect MC

c5e7_853d

A patient has findings consistent with Triple X syndrome. The condition is caused by extra X chromosome in a female. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XY/47,XY,+21 Incorrect 47,XX,+21 Incorrect 47,XXX Incorrect 46,XX/47,XXX Correct 45,X/46,XX Incorrect MC

e92c_65b1

A patient has findings consistent with Turner syndrome. The condition is caused by monosomy X or X mosaicism. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XX,del(4)(p16.3) Incorrect 45,X Incorrect 46,XY,rob(14;21)(q10;q10),+21 Incorrect 45,X/46,XY Correct 47,XY,+21 Incorrect MC

5123_5f43

A patient has findings consistent with Patau syndrome. The condition is caused by trisomy 13. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with trisomy 13. Which notation matches this? 46,XX/47,XX,+13 Correct 47,XY,+21 Incorrect 46,XX/47,XX,+7 Incorrect 46,XX,rob(14;21)(q10;q10),+21 Incorrect 47,XX,+13 Incorrect MC

bc7e_a53d

A patient has findings consistent with CML with Philadelphia chromosome. The condition is caused by reciprocal translocation between 9q34 and 22q11.2. The karyotype is best summarized as: female with reciprocal translocation between chromosomes 9 and 22 at q34 and q11.2. Which notation matches this? 46,XX,t(9;5)(q34;q11.2) Incorrect 45,X/46,XX Incorrect 46,XX,t(9;22)(q34;q11.2) Correct 46,XY/47,XXY Incorrect 47,XYY Incorrect MC

4a9e_f405

A patient has findings consistent with DiGeorge syndrome. The condition is caused by microdeletion at 22q11.2. The karyotype is best summarized as: female with a deletion on chromosome 22q11.2. Which notation matches this? 46,XX,dup(22)(q11.2) Incorrect 47,XX,+13 Incorrect 46,XX,del(22)(q11.2) Correct 46,XY/47,XYY Incorrect 46,XY,t(9;22)(q34;q11.2) Incorrect MC

c5e7_20e8

A patient has findings consistent with Triple X syndrome. The condition is caused by extra X chromosome in a female. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 45,X Incorrect 47,XX,+21 Incorrect 46,XX/47,XXX Correct 47,XX,+13 Incorrect 47,XY,+13 Incorrect MC

e92c_0bc1

A patient has findings consistent with Turner syndrome. The condition is caused by monosomy X or X mosaicism. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XX/47,XXX Incorrect 47,XY,+21 Incorrect 46,XX/47,XX,+21 Incorrect 46,XX,t(9;22)(q34;q11.2) Incorrect 45,X/46,XX Correct MC

014f_c7b7

A patient has findings consistent with DiGeorge syndrome. The condition is caused by microdeletion at 22q11.2. The karyotype is best summarized as: male with a deletion on chromosome 22q11.2. Which notation matches this? 46,XY/47,XYY Incorrect 46,XX/47,XX,+18 Incorrect 46,XX,t(9;22)(q34;q11.2) Incorrect 46,XX,del(4)(p16.3) Incorrect 46,XY,del(22)(q11.2) Correct MC

bf46_69b1

A patient has findings consistent with Down syndrome. The condition is caused by trisomy 21. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with trisomy 21. Which notation matches this? 47,XX,+18 Incorrect 46,XX/47,XX,+13 Incorrect 47,XXX Incorrect 46,XX/47,XX,+21 Correct 45,X/46,XY Incorrect MC

5123_d64b

A patient has findings consistent with Patau syndrome. The condition is caused by trisomy 13. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with trisomy 13. Which notation matches this? 46,XX/47,XX,+22 Incorrect 46,XX,del(5)(p15.2) Incorrect 46,XY,del(5)(p15.2) Incorrect 46,XX/47,XX,+13 Correct 46,XX,del(4)(p16.3) Incorrect MC

e92c_c1d5

A patient has findings consistent with Turner syndrome. The condition is caused by monosomy X or X mosaicism. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XX,del(4)(p16.3) Incorrect 45,X/46,XX Correct 47,XX,+18 Incorrect 46,XX/47,XX,+18 Incorrect 46,XY/47,XY,+13 Incorrect MC

23f1_f02c

A patient has findings consistent with Patau syndrome. The condition is caused by trisomy 13. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 13. Which notation matches this? 46,XY,del(22)(q11.2) Incorrect 45,X/46,XY Incorrect 46,XX,del(5)(p15.2) Incorrect 46,XY/47,XY,+13 Correct 46,XY/47,XY,+21 Incorrect MC

b205_50a0

A patient has findings consistent with Cri-du-chat syndrome. The condition is caused by deletion of 5p. The karyotype is best summarized as: male with a deletion on chromosome 5p15.2. Which notation matches this? 45,X Incorrect 45,X/46,XX Incorrect 46,XY,del(4)(p16.3) Incorrect 47,XXY Incorrect 46,XY,del(5)(p15.2) Correct MC

23f1_77ba

A patient has findings consistent with Patau syndrome. The condition is caused by trisomy 13. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 13. Which notation matches this? 47,XXY Incorrect 46,XY,del(5)(p15.2) Incorrect 47,XY,+21 Incorrect 46,XY/47,XY,+13 Correct 46,XY/47,XXY Incorrect MC

369c_5020

A patient has findings consistent with Edwards syndrome. The condition is caused by trisomy 18. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with trisomy 18. Which notation matches this? 46,XX/47,XY,+18 Incorrect 46,XX,t(9;22)(q34;q11.2) Incorrect 46,XX/47,XXX Incorrect 47,XX,+18 Incorrect 46,XX/47,XX,+18 Correct MC

4607_3fff

A patient has findings consistent with Cri-du-chat syndrome. The condition is caused by deletion of 5p. The karyotype is best summarized as: female with a deletion on chromosome 5p15.2. Which notation matches this? 46,XX,del(5)(p15.2) Correct 46,XY,t(9;22)(q34;q11.2) Incorrect 46,XY/47,XY,+13 Incorrect 47,XYY Incorrect 46,XY/47,XY,+21 Incorrect MC

5123_5452

A patient has findings consistent with Patau syndrome. The condition is caused by trisomy 13. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with trisomy 13. Which notation matches this? 46,XY/47,XXY Incorrect 46,XX/47,XX,+13 Correct 47,XX,+13 Incorrect 46,XY,del(22)(q11.2) Incorrect 47,XX,+21 Incorrect MC

b720_5312

A patient has findings consistent with CML with Philadelphia chromosome. The condition is caused by reciprocal translocation between 9q34 and 22q11.2. The karyotype is best summarized as: male with reciprocal translocation between chromosomes 9 and 22 at q34 and q11.2. Which notation matches this? 46,XY,t(9;22)(q34;q11.2) Correct 47,XYY Incorrect 47,XX,+13 Incorrect 46,XY/47,XY,+21 Incorrect 45,X/46,XX Incorrect MC

e92c_0734

A patient has findings consistent with Turner syndrome. The condition is caused by monosomy X or X mosaicism. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XX,del(22)(q11.2) Incorrect 47,XXX Incorrect 46,XY,del(4)(p16.3) Incorrect 45,X/46,XX Correct 47,XY,+21 Incorrect MC

2887_b89b

A patient has findings consistent with XYY syndrome. The condition is caused by extra Y chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XY/47,XYY Correct 45,X Incorrect 46,XX/47,XX,+13 Incorrect 46,XY/47,XXY Incorrect 46,XX,t(9;22)(q34;q11.2) Incorrect MC

c5e7_0ed6

A patient has findings consistent with Triple X syndrome. The condition is caused by extra X chromosome in a female. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XX/47,XXX Correct 47,XYY Incorrect 45,X Incorrect 46,XX/47,XX,+18 Incorrect 46,XX/47,XX,+21 Incorrect MC

213c_27f8

A patient has findings consistent with Down syndrome due to Robertsonian translocation. The condition is caused by unbalanced Robertsonian translocation involving chromosome 21. The karyotype is best summarized as: female with Robertsonian translocation involving chromosomes 14 and 21 with trisomy 21. Which notation matches this? 46,XY/47,XYY Incorrect 46,XX,rob(14;5)(q10;q10),+21 Incorrect 46,XX,rob(14;21)(q10;q10),+21 Correct 47,XY,+21 Incorrect 46,XY,rob(14;21)(q10;q10),+21 Incorrect MC

9560_af47

A patient has findings consistent with Down syndrome due to Robertsonian translocation. The condition is caused by unbalanced Robertsonian translocation involving chromosome 21. The karyotype is best summarized as: male with Robertsonian translocation involving chromosomes 14 and 21 with trisomy 21. Which notation matches this? 46,XY/47,XXY Incorrect 47,XXY Incorrect 46,XY,t(14;21)(q10;q10),+21 Incorrect 45,X Incorrect 46,XY,rob(14;21)(q10;q10),+21 Correct MC

4607_7721

A patient has findings consistent with Cri-du-chat syndrome. The condition is caused by deletion of 5p. The karyotype is best summarized as: female with a deletion on chromosome 5p15.2. Which notation matches this? 46,XX,del(5)(q15.2) Incorrect 47,XX,+13 Incorrect 47,XXX Incorrect 46,XX,del(5)(p15.2) Correct 46,XY,t(9;22)(q34;q11.2) Incorrect MC

9560_d3f8

A patient has findings consistent with Down syndrome due to Robertsonian translocation. The condition is caused by unbalanced Robertsonian translocation involving chromosome 21. The karyotype is best summarized as: male with Robertsonian translocation involving chromosomes 14 and 21 with trisomy 21. Which notation matches this? 46,XY/47,XY,+18 Incorrect 46,XY,rob(14;21)(q10;q10),+21 Correct 47,XXY Incorrect 46,XX,rob(14;21)(q10;q10),+21 Incorrect 46,XX,del(22)(q11.2) Incorrect MC

4e21_4d52

A patient has findings consistent with Down syndrome. The condition is caused by trisomy 21. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 21. Which notation matches this? 45,X Incorrect 46,XY/47,XX,+21 Incorrect 46,XY/47,XY,+21 Correct 46,XX/47,XX,+13 Incorrect 47,XXY Incorrect MC

4607_8e9e

A patient has findings consistent with Cri-du-chat syndrome. The condition is caused by deletion of 5p. The karyotype is best summarized as: female with a deletion on chromosome 5p15.2. Which notation matches this? 45,X/46,XX Incorrect 47,XY,+13 Incorrect 46,XY,t(9;22)(q34;q11.2) Incorrect 46,XX,del(5)(p15.2) Correct 46,XY,del(5)(p15.2) Incorrect MC

b720_baf9

A patient has findings consistent with CML with Philadelphia chromosome. The condition is caused by reciprocal translocation between 9q34 and 22q11.2. The karyotype is best summarized as: male with reciprocal translocation between chromosomes 9 and 22 at q34 and q11.2. Which notation matches this? 46,XX,rob(14;21)(q10;q10),+21 Incorrect 47,XX,+18 Incorrect 46,XY,t(9;22)(q34;q11.2) Correct 47,XY,+13 Incorrect 46,XY,rob(14;21)(q10;q10),+21 Incorrect MC

bf46_d2a0

A patient has findings consistent with Down syndrome. The condition is caused by trisomy 21. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with trisomy 21. Which notation matches this? 47,XYY Incorrect 46,XX,del(4)(p16.3) Incorrect 46,XY/47,XY,+21 Incorrect 45,X Incorrect 46,XX/47,XX,+21 Correct MC

bc7e_4e3a

A patient has findings consistent with CML with Philadelphia chromosome. The condition is caused by reciprocal translocation between 9q34 and 22q11.2. The karyotype is best summarized as: female with reciprocal translocation between chromosomes 9 and 22 at q34 and q11.2. Which notation matches this? 46,XY,rob(14;21)(q10;q10),+21 Incorrect 46,XX/47,XX,+21 Incorrect 46,XX,t(9;22)(q34;q11.2) Correct 47,XX,+18 Incorrect 46,XY,del(22)(q11.2) Incorrect MC

d5fc_6fe6

A patient has findings consistent with Klinefelter syndrome. The condition is caused by extra X chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XY,del(5)(p15.2) Incorrect 46,XY/47,XYY Incorrect 46,XY/47,XXY Correct 46,XX,rob(14;21)(q10;q10),+21 Incorrect 46,XY/47,XY,+18 Incorrect MC

213c_561b

A patient has findings consistent with Down syndrome due to Robertsonian translocation. The condition is caused by unbalanced Robertsonian translocation involving chromosome 21. The karyotype is best summarized as: female with Robertsonian translocation involving chromosomes 14 and 21 with trisomy 21. Which notation matches this? 46,XX,rob(14;21)(q10;q10),+21 Correct 47,XXY Incorrect 47,XY,+18 Incorrect 46,XY/47,XYY Incorrect 47,XX,+13 Incorrect MC

4a9e_4c58

A patient has findings consistent with DiGeorge syndrome. The condition is caused by microdeletion at 22q11.2. The karyotype is best summarized as: female with a deletion on chromosome 22q11.2. Which notation matches this? 46,XX,del(22)(q11.2) Correct 46,XY/47,XY,+21 Incorrect 45,X Incorrect 45,X/46,XY Incorrect 46,XX,del(22)(p11.2) Incorrect MC

7b22_59e5

A patient has findings consistent with Edwards syndrome. The condition is caused by trisomy 18. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 18. Which notation matches this? 47,XY,+13 Incorrect 46,XX,del(4)(p16.3) Incorrect 46,XY/47,XY,+18 Correct 46,XX/47,XX,+13 Incorrect 46,XY/47,XXY Incorrect MC

b205_47b9

A patient has findings consistent with Cri-du-chat syndrome. The condition is caused by deletion of 5p. The karyotype is best summarized as: male with a deletion on chromosome 5p15.2. Which notation matches this? 46,XY,dup(5)(p15.2) Incorrect 46,XX,t(9;22)(q34;q11.2) Incorrect 46,XY,del(5)(p15.2) Correct 46,XX,del(4)(p16.3) Incorrect 46,XX,del(5)(p15.2) Incorrect MC

bf46_614b

A patient has findings consistent with Down syndrome. The condition is caused by trisomy 21. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with trisomy 21. Which notation matches this? 46,XX,t(9;22)(q34;q11.2) Incorrect 46,XY,del(4)(p16.3) Incorrect 46,XY/47,XYY Incorrect 46,XX/47,XX,+21 Correct 47,XX,+13 Incorrect MC

014f_26f8

A patient has findings consistent with DiGeorge syndrome. The condition is caused by microdeletion at 22q11.2. The karyotype is best summarized as: male with a deletion on chromosome 22q11.2. Which notation matches this? 47,XX,+18 Incorrect 46,XX/47,XX,+13 Incorrect 46,XY,del(22)(q11.2) Correct 47,XX,+13 Incorrect 46,XY/47,XXY Incorrect MC

5123_9912

A patient has findings consistent with Patau syndrome. The condition is caused by trisomy 13. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with trisomy 13. Which notation matches this? 47,XXX Incorrect 46,XY/47,XY,+18 Incorrect 46,XY/47,XXY Incorrect 46,XX/47,XX,+4 Incorrect 46,XX/47,XX,+13 Correct MC

e92c_2238

A patient has findings consistent with Turner syndrome. The condition is caused by monosomy X or X mosaicism. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 45,X/46,XX Correct 46,XY,del(4)(p16.3) Incorrect 46,XY,del(22)(q11.2) Incorrect 47,XXX Incorrect 46,XX/47,XXX Incorrect MC

4a9e_b044

A patient has findings consistent with DiGeorge syndrome. The condition is caused by microdeletion at 22q11.2. The karyotype is best summarized as: female with a deletion on chromosome 22q11.2. Which notation matches this? 46,XX,del(22)(q11.1) Incorrect 46,XX,del(22)(q11.2) Correct 46,XX,t(9;22)(q34;q11.2) Incorrect 46,XY/47,XY,+21 Incorrect 47,XY,+18 Incorrect MC

b205_178f

A patient has findings consistent with Cri-du-chat syndrome. The condition is caused by deletion of 5p. The karyotype is best summarized as: male with a deletion on chromosome 5p15.2. Which notation matches this? 46,XX,del(4)(p16.3) Incorrect 47,XX,+18 Incorrect 45,X/46,XX Incorrect 47,XXX Incorrect 46,XY,del(5)(p15.2) Correct MC

2887_71d5

A patient has findings consistent with XYY syndrome. The condition is caused by extra Y chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XY/47,XXY Incorrect 47,XXX Incorrect 46,XY,del(22)(q11.2) Incorrect 46,XY,del(5)(p15.2) Incorrect 46,XY/47,XYY Correct MC

e92c_b7b4

A patient has findings consistent with Turner syndrome. The condition is caused by monosomy X or X mosaicism. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 45,X/46,XX Correct 46,XX,del(4)(p16.3) Incorrect 46,XY/47,XYY Incorrect 46,XY,del(5)(p15.2) Incorrect 47,XX,+13 Incorrect MC

9560_f255

A patient has findings consistent with Down syndrome due to Robertsonian translocation. The condition is caused by unbalanced Robertsonian translocation involving chromosome 21. The karyotype is best summarized as: male with Robertsonian translocation involving chromosomes 14 and 21 with trisomy 21. Which notation matches this? 46,XY,t(9;22)(q34;q11.2) Incorrect 46,XY/47,XY,+18 Incorrect 47,XXX Incorrect 46,XY,rob(14;21)(q10;q10),+21 Correct 46,XY,del(5)(p15.2) Incorrect MC

bc7e_8eda

A patient has findings consistent with CML with Philadelphia chromosome. The condition is caused by reciprocal translocation between 9q34 and 22q11.2. The karyotype is best summarized as: female with reciprocal translocation between chromosomes 9 and 22 at q34 and q11.2. Which notation matches this? 46,XX,t(9;22)(q34;q11.2) Correct 47,XX,+18 Incorrect 47,XY,+18 Incorrect 46,XY,del(5)(p15.2) Incorrect 46,XX/47,XXX Incorrect MC

2887_3ff4

A patient has findings consistent with XYY syndrome. The condition is caused by extra Y chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XX/47,XXX Incorrect 46,XY/47,XY,+18 Incorrect 46,XY,del(22)(q11.2) Incorrect 45,X/46,XY Incorrect 46,XY/47,XYY Correct MC

2887_b25f

A patient has findings consistent with XYY syndrome. The condition is caused by extra Y chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 47,XYY Incorrect 46,XY,del(4)(p16.3) Incorrect 46,XY/47,XY,+18 Incorrect 46,XY/47,XYY Correct 46,XY/47,XXY Incorrect MC

014f_119d

A patient has findings consistent with DiGeorge syndrome. The condition is caused by microdeletion at 22q11.2. The karyotype is best summarized as: male with a deletion on chromosome 22q11.2. Which notation matches this? 45,X/46,XY Incorrect 46,XY,del(22)(p11.2) Incorrect 46,XY,del(4)(p16.3) Incorrect 46,XX,del(22)(q11.2) Incorrect 46,XY,del(22)(q11.2) Correct MC

e92c_706b

A patient has findings consistent with Turner syndrome. The condition is caused by monosomy X or X mosaicism. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 47,XY,+13 Incorrect 46,XX,del(4)(p16.3) Incorrect 45,X/46,XY Incorrect 47,XX,+18 Incorrect 45,X/46,XX Correct MC

d5fc_2fd7

A patient has findings consistent with Klinefelter syndrome. The condition is caused by extra X chromosome in a male. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XY/47,XYY Incorrect 46,XX,rob(14;21)(q10;q10),+21 Incorrect 46,XY/47,XY,+13 Incorrect 45,X/46,XY Incorrect 46,XY/47,XXY Correct MC

369c_061a

A patient has findings consistent with Edwards syndrome. The condition is caused by trisomy 18. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with trisomy 18. Which notation matches this? 46,XX/47,XX,+13 Incorrect 47,XY,+13 Incorrect 46,XX/47,XX,+18 Correct 46,XY,rob(14;21)(q10;q10),+21 Incorrect 45,X/46,XX Incorrect MC

b720_6546

A patient has findings consistent with CML with Philadelphia chromosome. The condition is caused by reciprocal translocation between 9q34 and 22q11.2. The karyotype is best summarized as: male with reciprocal translocation between chromosomes 9 and 22 at q34 and q11.2. Which notation matches this? 46,XY,t(9;7)(q34;q11.2) Incorrect 46,XY,t(9;22)(q34;q11.2) Correct 46,XY,rob(14;21)(q10;q10),+21 Incorrect 47,XY,+21 Incorrect 45,X/46,XY Incorrect MC

bf46_86b6

A patient has findings consistent with Down syndrome. The condition is caused by trisomy 21. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with trisomy 21. Which notation matches this? 46,XY/47,XY,+13 Incorrect 46,XY/47,XYY Incorrect 47,XY,+13 Incorrect 46,XX,t(9;22)(q34;q11.2) Incorrect 46,XX/47,XX,+21 Correct MC

0e48_7fc1

A patient has findings consistent with Wolf-Hirschhorn syndrome. The condition is caused by deletion of 4p. The karyotype is best summarized as: male with a deletion on chromosome 4p16.3. Which notation matches this? 46,XX,rob(14;21)(q10;q10),+21 Incorrect 46,XY,del(4)(p16.3) Correct 46,XX,t(9;22)(q34;q11.2) Incorrect 46,XX/47,XXX Incorrect 46,XY,del(4)(q16.3) Incorrect MC

b205_0df8

A patient has findings consistent with Cri-du-chat syndrome. The condition is caused by deletion of 5p. The karyotype is best summarized as: male with a deletion on chromosome 5p15.2. Which notation matches this? 46,XY/47,XY,+21 Incorrect 46,XX,del(4)(p16.3) Incorrect 47,XY,+21 Incorrect 47,XY,+18 Incorrect 46,XY,del(5)(p15.2) Correct MC

e92c_c893

A patient has findings consistent with Turner syndrome. The condition is caused by monosomy X or X mosaicism. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 45,X/46,XY Correct 46,XX,del(22)(q11.2) Incorrect 47,XY,+13 Incorrect 46,XX/47,XX,+13 Incorrect 46,XX/47,XX,+18 Incorrect MC

4e21_8158

A patient has findings consistent with Down syndrome. The condition is caused by trisomy 21. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 21. Which notation matches this? 46,XY/47,XXY Incorrect 46,XY/47,XY,+18 Incorrect 46,XY/47,XX,+21 Incorrect 46,XY,del(4)(p16.3) Incorrect 46,XY/47,XY,+21 Correct MC

c5e7_c22e

A patient has findings consistent with Triple X syndrome. The condition is caused by extra X chromosome in a female. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XX,rob(14;21)(q10;q10),+21 Incorrect 46,XX/47,XXX Correct 46,XX/47,XX,+18 Incorrect 46,XY/47,XYY Incorrect 46,XX/47,XXY Incorrect MC

23f1_8a45

A patient has findings consistent with Patau syndrome. The condition is caused by trisomy 13. The karyotype is best summarized as: male with mosaicism: a normal 46-chromosome line and a line with trisomy 13. Which notation matches this? 46,XY/47,XY,+13 Correct 46,XX/47,XX,+13 Incorrect 46,XY,rob(14;21)(q10;q10),+21 Incorrect 46,XX/47,XX,+21 Incorrect 47,XX,+13 Incorrect MC

e92c_e91a

A patient has findings consistent with Turner syndrome. The condition is caused by monosomy X or X mosaicism. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 46,XY,del(4)(p16.3) Incorrect 46,XX,del(5)(p15.2) Incorrect 45,X/46,XX Correct 46,XY,rob(14;21)(q10;q10),+21 Incorrect 46,XY/47,XY,+21 Incorrect MC

c5e7_dbc5

A patient has findings consistent with Triple X syndrome. The condition is caused by extra X chromosome in a female. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 47,XY,+13 Incorrect 45,X Incorrect 47,XY,+21 Incorrect 46,XX/47,XXX Correct 46,XX,del(5)(p15.2) Incorrect MC

5123_edb5

A patient has findings consistent with Patau syndrome. The condition is caused by trisomy 13. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with trisomy 13. Which notation matches this? 47,XYY Incorrect 47,XX,+18 Incorrect 46,XX/47,XX,+18 Incorrect 47,XXX Incorrect 46,XX/47,XX,+13 Correct MC

b720_54b3

A patient has findings consistent with CML with Philadelphia chromosome. The condition is caused by reciprocal translocation between 9q34 and 22q11.2. The karyotype is best summarized as: male with reciprocal translocation between chromosomes 9 and 22 at q34 and q11.2. Which notation matches this? 46,XY,t(9;22)(q11.2;q34) Incorrect 46,XY,t(9;22)(q34;q11.2) Correct 45,X/46,XY Incorrect 47,XY,+13 Incorrect 46,XX,del(5)(p15.2) Incorrect MC

e92c_a817

A patient has findings consistent with Turner syndrome. The condition is caused by monosomy X or X mosaicism. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with . Which notation matches this? 47,XX,+21 Incorrect 46,XX,del(4)(p16.3) Incorrect 45,X/46,XX Correct 46,XY,t(9;22)(q34;q11.2) Incorrect 47,XYY Incorrect MC

0e48_874d

A patient has findings consistent with Wolf-Hirschhorn syndrome. The condition is caused by deletion of 4p. The karyotype is best summarized as: male with a deletion on chromosome 4p16.3. Which notation matches this? 45,X Incorrect 47,XXY Incorrect 46,XX,del(4)(p16.3) Incorrect 46,XY,del(4)(p16.3) Correct 47,XX,+13 Incorrect MC

369c_1e6f

A patient has findings consistent with Edwards syndrome. The condition is caused by trisomy 18. The karyotype is best summarized as: female with mosaicism: a normal 46-chromosome line and a line with trisomy 18. Which notation matches this? 46,XX/47,XX,+18 Correct 47,XXX Incorrect 47,XX,+18 Incorrect 46,XX,del(22)(q11.2) Incorrect 46,XX/47,XX,+13 Incorrect MC

9560_18c8

A patient has findings consistent with Down syndrome due to Robertsonian translocation. The condition is caused by unbalanced Robertsonian translocation involving chromosome 21. The karyotype is best summarized as: male with Robertsonian translocation involving chromosomes 14 and 21 with trisomy 21. Which notation matches this? 46,XY,rob(14;21)(q10;q10),+21 Correct 46,XY,t(9;22)(q34;q11.2) Incorrect 47,XY,+13 Incorrect 47,XYY Incorrect 46,XX/47,XX,+18 Incorrect