## DESCRIPTION ## Match each of the following genetic disorders with their corresponding descriptions. ## ENDDESCRIPTION ## KEYWORDS('genetic disorders','descriptions') ## DBsubject('Genetics') ## DBchapter('') ## DBsection('') ## Date('2026-07-12') ## Author('Neil R. Voss') ## Institution('Roosevelt University') DOCUMENT(); loadMacros( 'PGstandard.pl', 'PGML.pl', 'PGchoicemacros.pl', 'parserPopUp.pl', 'parserUtils.pl', 'PGgraders.pl', 'PGcourse.pl' ); our @ALPHABET = ('A' .. 'Z'); # ================================ # Full matching data # ================================ %match_data = ( 'Achondroplasia' => [ 'impairs the growth of bone in the limbs and causes abnormal growth in the spine and skull', ], 'Beta-Thalassemia' => [ 'reduced hemoglobin proteins that result in variable outcomes including severe anemia', ], 'Cystic fibrosis' => [ 'a faulty protein that affects the cells, tissues, and the glands that make mucus and sweat', 'autosomal recessive genetic disorder affecting most critically the lungs', ], 'Duchenne muscular dystrophy' => [ 'disorder that affects the muscles, leading to muscle wasting that gets worse over time', ], 'Fragile X syndrome' => [ 'a genetic condition involving changes in part of the X chromosome', ], 'Galactosemia' => [ 'metabolic disorder that affects an individual\'s ability to metabolize the sugar galactose properly', ], 'Hemophilia' => [ 'an inherited bleeding disorder in which the blood does NOT clot properly', ], 'Huntington\'s disease' => [ 'disorder that causes the progressive breakdown (degeneration) of nerve cells in the brain', ], 'Maple syrup urine disease' => [ 'metabolic disorder affecting branched-chain amino acids', 'gets its name from the distinctive sweet odor of affected infants\' urine', ], 'Marfan syndrome' => [ 'multi-systemic genetic disorder that affects the connective tissue', 'individuals with the condition tend to be tall and thin, with long arms, legs, fingers, and toes', ], 'Phenylketonuria' => [ 'inherited disorder that causes an amino acid called phenylalanine to build up in the body', 'genetic metabolic disorder that increases the body\'s levels of phenylalanine', 'inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine', ], 'Sickle-cell anemia' => [ 'affects your red blood cells, turning them from round flexible discs into stiff and sticky, long, and rigid cells', ], 'Tay-Sachs disease' => [ 'a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord', 'people with the disorder do NOT have enough of an enzyme called beta-hexosaminidase', ], 'Angelman syndrome' => [ 'caused by duplications of the UBE3A gene located on chromosome 15', 'disorder that is due to a extra piece (duplication) of a specific gene on chromosome 15', ], 'Prader-Willi syndrome' => [ 'a genetic disorder caused by a loss of function of specific genes on chromosome 15', 'disorder that is due to a missing piece (deletion) of a specific part of chromosome 15', ], 'Cri du chat syndrome' => [ 'usually include a high-pitched cat-like cry, mental disability, delayed development, distinctive facial features, widely-spaced eyes', 'disorder that is due to a missing piece (deletion) of a specific part of chromosome 5', 'disorder caused when a small part of chromosome 5 is missing', ], 'DiGeorge syndrome' => [ 'disorder caused when a small part of chromosome 22 is missing', 'disorder that is due to a missing piece (deletion) of a specific part of chromosome 22', ], 'Down syndrome' => [ 'genetic disorder caused by the presence of all or part of a third copy of chromosome 21', 'chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 21st chromosome', 'a chromosomal abnormality, in which the cells of the body contain extra genetic material from chromosome 21', 'result of a random error that causes a person to be born with an extra chromosome 21', ], 'Edwards syndrome' => [ 'chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 18th chromosome', 'genetic disorder caused by the presence of all or part of a third copy of chromosome 18', 'a chromosomal abnormality, in which the cells of the body contain extra genetic material from chromosome 18', 'result of a random error that causes a person to be born with an extra chromosome 18', ], 'Klinefelter syndrome' => [ 'result of a random error that causes a male to be born with an extra X chromosome', 'also known as 47,XXY, is a syndrome where a male has an additional copy of the X chromosome', ], 'Patau syndrome' => [ 'a chromosomal abnormality, in which the cells of the body contain extra genetic material from chromosome 13', 'chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 13th chromosome', 'genetic disorder caused by the presence of all or part of a third copy of chromosome 13', 'result of a random error that causes a person to be born with an extra chromosome 13', ], 'Philadelphia chromosome' => [ 'cancerous chromosomal abnormality that is manifested as a shortened version of human chromosome 22', 'forms when chromosome 9 and chromosome 22 break and exchange portions of their genetic material', ], 'Triple X syndrome' => [ 'also known as 47,XXX, is a genetic disorder that results in a female that has three X chromosomes', 'a genetic condition in females which there are three copies of the X chromosome', ], 'Turner syndrome' => [ 'a condition that affects only females, results when one of their X chromosomes is missing or partially missing', 'also known as monosomy X, includes a number of typical physical features observed such as webbed neck', ], 'WAGR syndrome' => [ 'genetic condition caused by a deletion of a group of genes located on chromosome number 11', 'disorder caused when a small part of chromosome 11 is missing', 'disorder that is due to a missing piece (deletion) of a specific part of chromosome 11', ], 'Wolf-Hirschhorn syndrome' => [ 'caused by a deletion within HSA band on the short arm of chromosome 4', 'genetic condition caused by a deletion of a group of genes located on chromosome number 4', 'disorder caused when a small part of chromosome 4 is missing', 'disorder that is due to a missing piece (deletion) of a specific part of chromosome 4', ], ); # ------------------------------- # Select N random keys # ------------------------------- my $n = 4; @all_keys = PGsort(sub { $_[0] lt $_[1] }, keys %match_data); my $local_seed = (defined($problemSeed) && $problemSeed ne '') ? $problemSeed : 1; my $local_random = new PGrandom($local_seed); my @indices = (0 .. $#all_keys); my @shuffled = (); while (@indices) { my $pick = $local_random->random(0, $#indices, 1); push @shuffled, splice(@indices, $pick, 1); } my @selected_keys = @all_keys[@shuffled[0..$n-1]]; # ------------------------------- # Build question/answer pairs # ------------------------------- # Each entry: [prompt, choice] @q_and_a = (); foreach my $key (@selected_keys) { my $values_ref = $match_data{$key}; my $i = $local_random->random(0, $#$values_ref, 1); my $value = $values_ref->[$i]; push @q_and_a, [ $value, $key ]; } # ------------------------------- # Randomize the questions # ------------------------------- my @q_indices = (0 .. $#q_and_a); my @q_shuffled = (); while (@q_indices) { my $pick = $local_random->random(0, $#q_indices, 1); push @q_shuffled, $q_and_a[splice(@q_indices, $pick, 1)]; } @q_and_a = @q_shuffled; # ------------------------------- # Sort the choices alphabetically # ------------------------------- @answers = (); push(@answers, (map { $_->[1] } @q_and_a)); @answers_sorted = PGsort(sub { $_[0] lt $_[1] }, @answers); # ------------------------------- # HTML-safe answer labels # ------------------------------- %answer_html = ( 'Achondroplasia' => 'Achondroplasia', 'Beta-Thalassemia' => 'Beta-Thalassemia', 'Cystic fibrosis' => 'Cystic fibrosis', 'Duchenne muscular dystrophy' => 'Duchenne muscular dystrophy', 'Fragile X syndrome' => 'Fragile X syndrome', 'Galactosemia' => 'Galactosemia', 'Hemophilia' => 'Hemophilia', 'Huntington\'s disease' => q{Huntington's disease}, 'Maple syrup urine disease' => 'Maple syrup urine disease', 'Marfan syndrome' => 'Marfan syndrome', 'Phenylketonuria' => 'Phenylketonuria', 'Sickle-cell anemia' => 'Sickle-cell anemia', 'Tay-Sachs disease' => 'Tay-Sachs disease', 'Angelman syndrome' => 'Angelman syndrome', 'Prader-Willi syndrome' => 'Prader-Willi syndrome', 'Cri du chat syndrome' => 'Cri du chat syndrome', 'DiGeorge syndrome' => 'DiGeorge syndrome', 'Down syndrome' => 'Down syndrome', 'Edwards syndrome' => 'Edwards syndrome', 'Klinefelter syndrome' => 'Klinefelter syndrome', 'Patau syndrome' => 'Patau syndrome', 'Philadelphia chromosome' => 'Philadelphia chromosome', 'Triple X syndrome' => 'Triple X syndrome', 'Turner syndrome' => 'Turner syndrome', 'WAGR syndrome' => 'WAGR syndrome', 'Wolf-Hirschhorn syndrome' => 'Wolf-Hirschhorn syndrome', ); @answers_sorted_html = map { $answer_html{$_} || $_ } @answers_sorted; # ------------------------------- # Create answer index lookup # ------------------------------- our %answer_index; for (my $i = 0; $i <= $#answers_sorted; $i++) { $answer_index{$answers_sorted[$i]} = $i; } # ------------------------------- # PopUp/DropDown compatibility # ------------------------------- sub make_popup { return defined &DropDown ? DropDown(@_) : PopUp(@_); } # ------------------------------- # Create popup objects (blank default) # ------------------------------- my @answer_letters = @ALPHABET[0 .. $#answers_sorted]; my @answer_letters_with_blank = ('', @answer_letters); @answer_dropdowns = map { make_popup([ @answer_letters_with_blank ], $answer_index{$q_and_a[$_][1]} + 1 ) } 0 .. $#q_and_a; # ------------------------------- # Render the question # ------------------------------- HEADER_TEXT(< .pgml-bold { font-weight: 700; } .two-column { display: flex; flex-wrap: wrap; gap: 2rem; align-items: center; justify-content: space-evenly; } END_STYLE $question_text = 'Match each of the following genetic disorders with their corresponding descriptions.'; $note_text = 'Note: Each choice will be used exactly once.'; BEGIN_PGML [$question_text]* [$note_text]* [@ MODES(HTML => '

') @]* [@ join( "\n\n", map { '[_]{$answer_dropdowns[' . $_ . ']} ' . '*' . ($_ + 1) . '.* ' . '[$q_and_a[' . $_ . '][0]]*' } 0 .. $#q_and_a ) @]** [@ MODES(HTML => '

') @]* [@ join( "\n\n", map { chr(65 + $_) . '\\.' . ' ' . '[$answers_sorted_html[' . $_ . ']]*' } 0 .. $#answers_sorted ) @]** [@ MODES(HTML => '

') @]* END_PGML # ------------------------------- # Dynamic Partial Credit Based on $n # ------------------------------- $showPartialCorrectAnswers = 0; my @thresholds; my @scores; for (my $i = 1; $i <= $n; $i++) { push @thresholds, $i; push @scores, sprintf("%.2f", $i / $n); } install_problem_grader(~~&custom_problem_grader_fluid); $ENV{grader_numright} = [@thresholds]; $ENV{grader_scores} = [@scores]; $ENV{grader_message} = 'You can earn partial credit.'; # ------------------------------- # Solution # ------------------------------- $answer_list = join(', ', map { ($_ + 1) . '-' . $ALPHABET[$answer_index{$q_and_a[$_][1]}] } 0 .. $#q_and_a); BEGIN_PGML_SOLUTION The correct answers are: [$answer_list]. END_PGML_SOLUTION ENDDOCUMENT();