Biology

Human Genetics and Disorders

882 Questions

Human Genetics and Disorders covers the inheritance patterns, genetic mutations, and molecular basis of hereditary diseases. Topics include sex-linked traits, cancer genetics, and metabolic disorders. This section tests knowledge critical for biology exams and general science papers.

Genetic mutationsInherited disordersCancer geneticsGenetic testingMendelian inheritance

Human Genetics and Disorders Questions

Multiple choice

Which of the following statements about 13q deletion syndrome is/are incorrect?

  1. Congenital heart diseases are associated with 13q deletion syndrome.
  2. Deletions from 13q33 to the end of the chromosome are associated with intellectual disability.
  3. Deletions that include the 13q32 band consist of brain development gene BRCA2, and are associated with arhinencephaly.

  1. Only 1

  2. Only 2

  3. Only 3

  4. Only 1 and 2

  5. Only 2 and 3
Reveal answer Fill a bubble to check yourself
C Correct answer
Explanation

This option is correct because deletions that include the 13q32 band consist of brain development gene ZIC2, and are associated with arhinencephaly.

Multiple choice

Assertion: ABCD syndrome is a cell migration disorder of the neurocytes of the gut and sensorineural deafness. Reason: Skin of an affected individual is albino pale besides the brown patches of mispigmented skin.

  1. A and R both are correct and R is the correct explanation of A.

  2. A and R both are correct and R is not the correct explanation of A.

  3. A is correct and R is incorrect.

  4. A is incorrect and R is correct.

  5. A and R both are incorrect.
Reveal answer Fill a bubble to check yourself
B Correct answer
Explanation

This option is correct. ABCD syndrome is a cell migration disorder of the neurocytes of the gut and sensorineural deafness is caused due to mutation in the endothelin B receptor gene and skin of an affected individual is albino pale besides the brown patches of mispigmented skin.

Multiple choice

Which of the following pairs of 'disorder - its effect' is incorrectly matched?

  1. ATR-16 syndrome - genetic disorder that causes premature fusion of the skull bones and malformations of facial, forearm and hand bones

  2. Auto-brewery syndrome - intoxicating quantities of ethanol are produced through endogenous fermentation within the digestive system

  3. Autoimmune polyendocrine syndrome - disorder that causes autoimmune activity against more than one endocrine organ

  4. Ivemark syndrome - congenital disorder that causes defects in the heart, spleen, lungs and kidneys

  5. Arterial tortuosity syndrome - congenital connective tissue condition disorder that causes elongation and generalised tortuosity of the major arteries, including the aorta
Reveal answer Fill a bubble to check yourself
A Correct answer
Explanation

Correct Answer: ATR-16 syndrome - genetic disorder that causes premature fusion of the skull bones and malformations of facial, forearm and hand bones

Multiple choice

Which of the following is a genetic and endocrine syndrome that affects both genders, discloses itself in males as complete phenotypical feminisation and in females as hyperfeminisation?

  1. Antley-Bixler syndrome

  2. Apert syndrome

  3. Apparent mineralocorticoid excess syndrome

  4. AREDYLD syndrome

  5. Aromatase excess syndrome
Reveal answer Fill a bubble to check yourself
E Correct answer
Explanation

This option is correct. Aromatase excess syndrome is a genetic and endocrine syndrome that affects both genders, discloses itself in males as complete phenotypical feminisation and in females as hyperfeminisation.

Multiple choice

Match the following:

 
List - I List - II
A. Maroteaux-Malamut syndrome 1. Cluster of facial malformations
B. Acromesomelic dysplasia 2. Rare neurological disorder
C. AIDS dysmorphic syndrome 3. Rare skeletal disorder
D. Alien hand syndrome 4. Rare congenital malformation syndrome

  1. A - 4, B - 3, C - 2, D - 1

  2. A - 4, B - 3, C - 1, D - 2

  3. A - 3, B - 1, C - 2, D - 4

  4. A - 3, B - 2, C - 1, D - 4

  5. A - 1, B - 4, C - 3, D - 2
Reveal answer Fill a bubble to check yourself
B Correct answer
Explanation

This option is correct because all the disorders are correctly matched.

Maroteaux-Malamut syndrome is a rare congenital malformation syndrome. Acromesomelic dysplasia is a rare skeletal disorder. AIDS dysmorphic syndrome is a cluster of facial malformations. Alien hand syndrome is a rare neurological disorder.  

Multiple choice

Which of the following pairs of 'disorder - its cause' is/are incorrectly matched?

  1. Barakat syndrome - defect getting mapped to chromosome 10p
  2. Blepharophimosis, ptosis, epicanthus inversus syndrome - caused by a mutation in the gene FOXL2 that is located at band 23 on the long arm of chromosome 3
  3. Brunner syndrome - caused by mutations in the maternally and paternally-derived copies of the gene BLM

  1. Only 1

  2. Only 2

  3. Only 3

  4. Only 1 and 2

  5. Only 2 and 3
Reveal answer Fill a bubble to check yourself
C Correct answer
Explanation

This option is correct. Brunner syndrome is caused by monoamine oxidase A deficiency whereas Bloom-Torre-Machacek syndrome is caused by mutations in the maternally and paternally-derived copies of the gene BLM.

Multiple choice

Which of the following is a rare autosomal recessive genetic disorder in which skull, skin, fingers, genitals, nipples and abdominal wall appear deformed?

  1. 8p23.1 duplication syndrome

  2. Shawl scrotum syndrome

  3. 3q29 microdeletion syndrome

  4. Ablepharon macrostomia syndrome

  5. 2-hydroxyglutaric aciduria
Reveal answer Fill a bubble to check yourself
D Correct answer
Explanation

Ablepharon macrostomia syndrome is a rare autosomal recessive genetic disorder. It causes deformity of the skull, skin, fingers, genitals, nipples and abdominal wall.

Multiple choice

Which of the following disorders occurs due to the mutation in microsomal triglyceride transfer protein that results in scarcities in the apolipoproteins B-48 and B-100?

  1. Bassen-Kornzweig syndrome

  2. ABCD syndrome

  3. Horn-Kolb syndrome

  4. Achondroplasia

  5. Acrocallosal syndrome
Reveal answer Fill a bubble to check yourself
A Correct answer
Explanation

This option is correct. Bassen-Kornzweig syndrome occurs due to the mutation in microsomal triglyceride transfer protein that results in scarcities in the apolipoproteins B-48 and B-100.

Multiple choice

Which of the following is a ciliopathic human genetic disorder that causes excess body fat accumulation, retinitis pigmentosa, hyperdactyly, hypogonadism and kidney failure?

  1. Bardet-Biedl syndrome

  2. Alagille syndrome

  3. Adipsia syndrome

  4. Christian syndrome

  5. Adams-Oliver syndrome
Reveal answer Fill a bubble to check yourself
A Correct answer
Explanation

This option is correct. Bardet-Biedl syndrome is a ciliopathic human genetic disorder that causes excess body fat accumulation, retinitis pigmentosa, hyperdactyly, hypogonadism and kidney failure.