## DESCRIPTION
## Select the genetic disorder that corresponds to the given description.
## ENDDESCRIPTION
## KEYWORDS('genetic disorders','descriptions','which one','multiple choice')
## DBsubject('Genetics')
## DBchapter('')
## DBsection('')
## Date('2026-07-12')
## Author('Neil R. Voss')
## Institution('Roosevelt University')
DOCUMENT();
loadMacros(
'PGstandard.pl',
'PGML.pl',
'PGchoicemacros.pl',
'parserRadioButtons.pl',
'PGcourse.pl',
);
TEXT(beginproblem());
$showPartialCorrectAnswers = 0;
#==========================================================
# QUESTION DATA
#==========================================================
# All questions data
@questions_data = (
{
'item_name' => 'impairs the growth of bone in the limbs and causes abnormal growth in the spine and skull',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Achondroplasia',
'Galactosemia',
'Marfan syndrome',
'Klinefelter syndrome',
],
'correct' => 'Achondroplasia',
},
{
'item_name' => 'reduced hemoglobin proteins that result in variable outcomes including severe anemia',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Achondroplasia',
'Beta-Thalassemia',
'Cystic fibrosis',
'Galactosemia',
],
'correct' => 'Beta-Thalassemia',
},
{
'item_name' => 'a faulty protein that affects the cells, tissues, and the glands that make mucus and sweat',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Cystic fibrosis',
'Huntington\'s disease',
'Maple syrup urine disease',
'Turner syndrome',
],
'correct' => 'Cystic fibrosis',
},
{
'item_name' => 'autosomal recessive genetic disorder affecting most critically the lungs',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Beta-Thalassemia',
'Cystic fibrosis',
'Prader-Willi syndrome',
'Klinefelter syndrome',
],
'correct' => 'Cystic fibrosis',
},
{
'item_name' => 'disorder that affects the muscles, leading to muscle wasting that gets worse over time',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Duchenne muscular dystrophy',
'Maple syrup urine disease',
'Phenylketonuria',
'Wolf-Hirschhorn syndrome',
],
'correct' => 'Duchenne muscular dystrophy',
},
{
'item_name' => 'a genetic condition involving changes in part of the X chromosome',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Fragile X syndrome',
'Cri du chat syndrome',
'Down syndrome',
'Philadelphia chromosome',
],
'correct' => 'Fragile X syndrome',
},
{
'item_name' => 'metabolic disorder that affects an individual\'s ability to metabolize the sugar galactose properly',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Galactosemia',
'Marfan syndrome',
'Prader-Willi syndrome',
'Cri du chat syndrome',
],
'correct' => 'Galactosemia',
},
{
'item_name' => 'an inherited bleeding disorder in which the blood does NOT clot properly',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Achondroplasia',
'Hemophilia',
'Angelman syndrome',
'WAGR syndrome',
],
'correct' => 'Hemophilia',
},
{
'item_name' => 'disorder that causes the progressive breakdown (degeneration) of nerve cells in the brain',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Achondroplasia',
'Huntington\'s disease',
'Marfan syndrome',
'Wolf-Hirschhorn syndrome',
],
'correct' => 'Huntington\'s disease',
},
{
'item_name' => 'metabolic disorder affecting branched-chain amino acids',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Maple syrup urine disease',
'Patau syndrome',
'Triple X syndrome',
'Wolf-Hirschhorn syndrome',
],
'correct' => 'Maple syrup urine disease',
},
{
'item_name' => 'gets its name from the distinctive sweet odor of affected infants\' urine',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Maple syrup urine disease',
'Phenylketonuria',
'Sickle-cell anemia',
'DiGeorge syndrome',
],
'correct' => 'Maple syrup urine disease',
},
{
'item_name' => 'multi-systemic genetic disorder that affects the connective tissue',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Marfan syndrome',
'Prader-Willi syndrome',
'DiGeorge syndrome',
'WAGR syndrome',
],
'correct' => 'Marfan syndrome',
},
{
'item_name' => 'individuals with the condition tend to be tall and thin, with long arms, legs, fingers, and toes',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Marfan syndrome',
'Tay-Sachs disease',
'Philadelphia chromosome',
'WAGR syndrome',
],
'correct' => 'Marfan syndrome',
},
{
'item_name' => 'inherited disorder that causes an amino acid called phenylalanine to build up in the body',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Achondroplasia',
'Phenylketonuria',
'Philadelphia chromosome',
'Wolf-Hirschhorn syndrome',
],
'correct' => 'Phenylketonuria',
},
{
'item_name' => 'genetic metabolic disorder that increases the body\'s levels of phenylalanine',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Cystic fibrosis',
'Phenylketonuria',
'WAGR syndrome',
'Wolf-Hirschhorn syndrome',
],
'correct' => 'Phenylketonuria',
},
{
'item_name' => 'inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Fragile X syndrome',
'Phenylketonuria',
'Prader-Willi syndrome',
'Turner syndrome',
],
'correct' => 'Phenylketonuria',
},
{
'item_name' => 'affects your red blood cells, turning them from round flexible discs into stiff and sticky, long, and rigid cells',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Sickle-cell anemia',
'Down syndrome',
'Philadelphia chromosome',
'Wolf-Hirschhorn syndrome',
],
'correct' => 'Sickle-cell anemia',
},
{
'item_name' => 'a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Cystic fibrosis',
'Fragile X syndrome',
'Tay-Sachs disease',
'Wolf-Hirschhorn syndrome',
],
'correct' => 'Tay-Sachs disease',
},
{
'item_name' => 'people with the disorder do NOT have enough of an enzyme called beta-hexosaminidase',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Cystic fibrosis',
'Fragile X syndrome',
'Sickle-cell anemia',
'Tay-Sachs disease',
],
'correct' => 'Tay-Sachs disease',
},
{
'item_name' => 'caused by duplications of the UBE3A gene located on chromosome 15',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Achondroplasia',
'Sickle-cell anemia',
'Angelman syndrome',
'Triple X syndrome',
],
'correct' => 'Angelman syndrome',
},
{
'item_name' => 'disorder that is due to a extra piece (duplication) of a specific gene on chromosome 15',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Duchenne muscular dystrophy',
'Maple syrup urine disease',
'Marfan syndrome',
'Angelman syndrome',
],
'correct' => 'Angelman syndrome',
},
{
'item_name' => 'a genetic disorder caused by a loss of function of specific genes on chromosome 15',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Galactosemia',
'Phenylketonuria',
'Angelman syndrome',
'Prader-Willi syndrome',
],
'correct' => 'Prader-Willi syndrome',
},
{
'item_name' => 'disorder that is due to a missing piece (deletion) of a specific part of chromosome 15',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Cystic fibrosis',
'Maple syrup urine disease',
'Prader-Willi syndrome',
'Cri du chat syndrome',
],
'correct' => 'Prader-Willi syndrome',
},
{
'item_name' => 'usually include a high-pitched cat-like cry, mental disability, delayed development, distinctive facial features, widely-spaced eyes',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Cystic fibrosis',
'Marfan syndrome',
'Angelman syndrome',
'Cri du chat syndrome',
],
'correct' => 'Cri du chat syndrome',
},
{
'item_name' => 'disorder that is due to a missing piece (deletion) of a specific part of chromosome 5',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Cystic fibrosis',
'Cri du chat syndrome',
'Down syndrome',
'WAGR syndrome',
],
'correct' => 'Cri du chat syndrome',
},
{
'item_name' => 'disorder caused when a small part of chromosome 5 is missing',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Phenylketonuria',
'Cri du chat syndrome',
'Klinefelter syndrome',
'Turner syndrome',
],
'correct' => 'Cri du chat syndrome',
},
{
'item_name' => 'disorder caused when a small part of chromosome 22 is missing',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Phenylketonuria',
'Tay-Sachs disease',
'Prader-Willi syndrome',
'DiGeorge syndrome',
],
'correct' => 'DiGeorge syndrome',
},
{
'item_name' => 'disorder that is due to a missing piece (deletion) of a specific part of chromosome 22',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Fragile X syndrome',
'Marfan syndrome',
'Cri du chat syndrome',
'DiGeorge syndrome',
],
'correct' => 'DiGeorge syndrome',
},
{
'item_name' => 'genetic disorder caused by the presence of all or part of a third copy of chromosome 21',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Galactosemia',
'DiGeorge syndrome',
'Down syndrome',
'Edwards syndrome',
],
'correct' => 'Down syndrome',
},
{
'item_name' => 'chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 21st chromosome',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Duchenne muscular dystrophy',
'Tay-Sachs disease',
'Down syndrome',
'Triple X syndrome',
],
'correct' => 'Down syndrome',
},
{
'item_name' => 'a chromosomal abnormality, in which the cells of the body contain extra genetic material from chromosome 21',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Beta-Thalassemia',
'Galactosemia',
'Marfan syndrome',
'Down syndrome',
],
'correct' => 'Down syndrome',
},
{
'item_name' => 'result of a random error that causes a person to be born with an extra chromosome 21',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Achondroplasia',
'Hemophilia',
'Maple syrup urine disease',
'Down syndrome',
],
'correct' => 'Down syndrome',
},
{
'item_name' => 'chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 18th chromosome',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Down syndrome',
'Edwards syndrome',
'Patau syndrome',
'Turner syndrome',
],
'correct' => 'Edwards syndrome',
},
{
'item_name' => 'genetic disorder caused by the presence of all or part of a third copy of chromosome 18',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Hemophilia',
'Sickle-cell anemia',
'Edwards syndrome',
'Patau syndrome',
],
'correct' => 'Edwards syndrome',
},
{
'item_name' => 'a chromosomal abnormality, in which the cells of the body contain extra genetic material from chromosome 18',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Achondroplasia',
'Edwards syndrome',
'Patau syndrome',
'Wolf-Hirschhorn syndrome',
],
'correct' => 'Edwards syndrome',
},
{
'item_name' => 'result of a random error that causes a person to be born with an extra chromosome 18',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Cri du chat syndrome',
'Edwards syndrome',
'Philadelphia chromosome',
'Wolf-Hirschhorn syndrome',
],
'correct' => 'Edwards syndrome',
},
{
'item_name' => 'result of a random error that causes a male to be born with an extra X chromosome',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Beta-Thalassemia',
'Maple syrup urine disease',
'Marfan syndrome',
'Klinefelter syndrome',
],
'correct' => 'Klinefelter syndrome',
},
{
'item_name' => 'also known as 47,XXY, is a syndrome where a male has an additional copy of the X chromosome',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Huntington\'s disease',
'Marfan syndrome',
'Klinefelter syndrome',
'Triple X syndrome',
],
'correct' => 'Klinefelter syndrome',
},
{
'item_name' => 'a chromosomal abnormality, in which the cells of the body contain extra genetic material from chromosome 13',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Beta-Thalassemia',
'Maple syrup urine disease',
'Patau syndrome',
'Triple X syndrome',
],
'correct' => 'Patau syndrome',
},
{
'item_name' => 'chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 13th chromosome',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Phenylketonuria',
'Prader-Willi syndrome',
'Patau syndrome',
'Turner syndrome',
],
'correct' => 'Patau syndrome',
},
{
'item_name' => 'genetic disorder caused by the presence of all or part of a third copy of chromosome 13',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Fragile X syndrome',
'Sickle-cell anemia',
'Tay-Sachs disease',
'Patau syndrome',
],
'correct' => 'Patau syndrome',
},
{
'item_name' => 'result of a random error that causes a person to be born with an extra chromosome 13',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Hemophilia',
'Klinefelter syndrome',
'Patau syndrome',
'Philadelphia chromosome',
],
'correct' => 'Patau syndrome',
},
{
'item_name' => 'cancerous chromosomal abnormality that is manifested as a shortened version of human chromosome 22',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Tay-Sachs disease',
'Down syndrome',
'Klinefelter syndrome',
'Philadelphia chromosome',
],
'correct' => 'Philadelphia chromosome',
},
{
'item_name' => 'forms when chromosome 9 and chromosome 22 break and exchange portions of their genetic material',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Duchenne muscular dystrophy',
'Angelman syndrome',
'Philadelphia chromosome',
'Triple X syndrome',
],
'correct' => 'Philadelphia chromosome',
},
{
'item_name' => 'also known as 47,XXX, is a genetic disorder that results in a female that has three X chromosomes',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Phenylketonuria',
'Prader-Willi syndrome',
'Patau syndrome',
'Triple X syndrome',
],
'correct' => 'Triple X syndrome',
},
{
'item_name' => 'a genetic condition in females which there are three copies of the X chromosome',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Sickle-cell anemia',
'Angelman syndrome',
'Klinefelter syndrome',
'Triple X syndrome',
],
'correct' => 'Triple X syndrome',
},
{
'item_name' => 'a condition that affects only females, results when one of their X chromosomes is missing or partially missing',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Cystic fibrosis',
'Marfan syndrome',
'Tay-Sachs disease',
'Turner syndrome',
],
'correct' => 'Turner syndrome',
},
{
'item_name' => 'also known as monosomy X, includes a number of typical physical features observed such as webbed neck',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Down syndrome',
'Klinefelter syndrome',
'Triple X syndrome',
'Turner syndrome',
],
'correct' => 'Turner syndrome',
},
{
'item_name' => 'genetic condition caused by a deletion of a group of genes located on chromosome number 11',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Cri du chat syndrome',
'DiGeorge syndrome',
'Edwards syndrome',
'WAGR syndrome',
],
'correct' => 'WAGR syndrome',
},
{
'item_name' => 'disorder caused when a small part of chromosome 11 is missing',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Beta-Thalassemia',
'Fragile X syndrome',
'Maple syrup urine disease',
'WAGR syndrome',
],
'correct' => 'WAGR syndrome',
},
{
'item_name' => 'disorder that is due to a missing piece (deletion) of a specific part of chromosome 11',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Prader-Willi syndrome',
'Down syndrome',
'Klinefelter syndrome',
'WAGR syndrome',
],
'correct' => 'WAGR syndrome',
},
{
'item_name' => 'caused by a deletion within HSA band on the short arm of chromosome 4',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Achondroplasia',
'Klinefelter syndrome',
'Philadelphia chromosome',
'Wolf-Hirschhorn syndrome',
],
'correct' => 'Wolf-Hirschhorn syndrome',
},
{
'item_name' => 'genetic condition caused by a deletion of a group of genes located on chromosome number 4',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Achondroplasia',
'Angelman syndrome',
'Cri du chat syndrome',
'Wolf-Hirschhorn syndrome',
],
'correct' => 'Wolf-Hirschhorn syndrome',
},
{
'item_name' => 'disorder caused when a small part of chromosome 4 is missing',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Beta-Thalassemia',
'Phenylketonuria',
'Triple X syndrome',
'Wolf-Hirschhorn syndrome',
],
'correct' => 'Wolf-Hirschhorn syndrome',
},
{
'item_name' => 'disorder that is due to a missing piece (deletion) of a specific part of chromosome 4',
'plural_choice' => 'genetic disorders',
'singular_item' => 'description',
'choices' => [
'Beta-Thalassemia',
'Phenylketonuria',
'Down syndrome',
'Wolf-Hirschhorn syndrome',
],
'correct' => 'Wolf-Hirschhorn syndrome',
},
);
#==========================================================
# SELECT RANDOM QUESTION
#==========================================================
my $local_random = PGrandom->new();
$local_random->srand($problemSeed);
$question_idx = $local_random->random(0, scalar(@questions_data) - 1, 1);
$q = $questions_data[$question_idx];
$item_name = $q->{'item_name'};
$plural_choice = $q->{'plural_choice'};
$singular_item = $q->{'singular_item'};
@choices = @{ $q->{'choices'} };
$correct = $q->{'correct'};
#==========================================================
# SHUFFLE CHOICES (SEED-STABLE)
#==========================================================
my @choice_indices = (0 .. $#choices);
my @choice_shuffled = ();
while (@choice_indices) {
my $pick = $local_random->random(0, $#choice_indices, 1);
push @choice_shuffled, splice(@choice_indices, $pick, 1);
}
@choices = @choices[@choice_shuffled];
#==========================================================
# BUILD RADIO BUTTONS
#==========================================================
$rb = RadioButtons(
[@choices],
$correct,
labels => 'ABC',
displayLabels => 1,
randomize => 0,
separator => '',
);
#==========================================================
# PGML
#==========================================================
BEGIN_PGML
Which one of the following [$plural_choice]* corresponds to the [$singular_item]* [$item_name]*?
[_]{$rb}
END_PGML
BEGIN_PGML_SOLUTION
The correct answer is: [$correct]*
END_PGML_SOLUTION
ENDDOCUMENT();