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Free Genetic Disorders MCQs with Answers

11 Genetic Disorders MCQs from Pathology, each with the correct answer and a written explanation of why it is correct. Free and unlimited, with no account needed.

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11 questions

1. HOX gene is responsible for which malformation_____________?

  • A. Gorlin syndrome
  • B. Holoprosencephaly
  • C. Mayer Rokitansky syndrome
  • D. Polysyndactyly

Explanation: HOXD13 mutations disrupt limb patterning and classically produce synpolydactyly or polysyndactyly.

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Correct answer: Polysyndactyly

2. Syndrome which is characterized by 2X chromosomes and 1Y chromosome is_____________?

  • A. Marfan syndrome
  • B. Down syndrome
  • C. Turner syndrome
  • D. Kleinfelters syndrome

Explanation: Klinefelter syndrome has a 47,XXY karyotype, giving a male two X chromosomes and one Y chromosome.

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Correct answer: Kleinfelters syndrome

3. A infant with cleft lip, palate, polydactly, microcephaly with holoprosencephaly, ectodermal scalp defect is suffering from ?

  • A. Trisomy 13
  • B. Trisomy 18
  • C. Trisomy 21
  • D. Turner syndrome

Explanation: Trisomy 13, or Patau syndrome, combines cleft lip and palate, polydactyly, microcephaly, holoprosencephaly and scalp defects such as…

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Correct answer: Trisomy 13

4. Down syndrome is caused by all except___________?

  • A. Trisomy of 21 chromosome
  • B. Deletion of 21
  • C. Robersonian translocation of 21.21, 21.18
  • D. Mosaicism of 21 chromosome

Explanation: Down syndrome results from full trisomy 21, mosaicism, or an extra chromosome 21 attached by Robertsonian translocation.

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Correct answer: Deletion of 21

5. A haemophilia person has married to a normal woman Then his___________?

  • A. Daughter are infeted
  • B. Sons are infected
  • C. Daughter are carrier
  • D. All are normal

Explanation: An affected haemophiliac man passes his affected X chromosome to every daughter and his Y chromosome to every son; with a normal woman…

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Correct answer: Daughter are carrier

6. Which of the following procedures is used as a routine technique in karyotyping using light microscopy ?

  • A. Brd V-staining
  • B. C banding
  • C. Q banding
  • D. G banding

Explanation: G-banding uses trypsin digestion followed by Giemsa staining and is the routine banding method for identifying chromosomes in…

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Correct answer: G banding

7. Which is associated with defect in DNA repair___________?

  • A. Xeroderma pigmentosum
  • B. Albinism
  • C. Icthyosis
  • D. Sickle cell anaemia

Explanation: Xeroderma pigmentosum results from defective nucleotide-excision repair of ultraviolet-induced DNA damage, causing extreme…

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Correct answer: Xeroderma pigmentosum

8. Barr body is associated with________?

  • A. Metaphase
  • B. Interphase
  • C. Anaphase
  • D. Prophase

Explanation: A Barr body is the condensed, inactive X chromosome seen in the nucleus during interphase.

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Correct answer: Interphase

9. Syndrome associated with increased risk of leukemia is__________?

  • A. Plummer vinson syndrome
  • B. Sturge weber syndrome
  • C. Klinefelter syndrome
  • D. Multiple hamartoma syndrome

Explanation: Klinefelter syndrome has been associated with an increased risk of certain malignancies, including reported haematological malignancies…

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Correct answer: Klinefelter syndrome

10. IN fanconi anemia there is a_______________?

  • A. Deficiency of copper
  • B. Purely nutritional disorder etiology
  • C. No increased risk of Sq. cell carcinoma
  • D. Mutation of DNA repair gene

Explanation: Fanconi anaemia is an inherited DNA repair defect, causing bone-marrow failure and congenital abnormalities.

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Correct answer: Mutation of DNA repair gene

11. In sickle cell anemia there is substitution of_________________?

  • A. Valine for glutamic acid at the sixth position of beta chain
  • B. Phenylalanine for glutamic acid
  • C. Tyrosine for valine at the 6th position at beta chain
  • D. All of the above

Explanation: Sickle cell anaemia results from a missense mutation in the β-globin gene, replacing glutamic acid with valine at position 6.

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Correct answer: Valine for glutamic acid at the sixth position of beta chain
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Genetic Disorders MCQs: common questions

Are these Genetic Disorders MCQs free?

Yes. All Genetic Disorders MCQs from Pathology are free on TestUstad, with unlimited attempts and no account needed. Nothing on this page is a sample or a trial.

How many Genetic Disorders MCQs are on this page?

There are 11 Genetic Disorders MCQs in the Pathology bank, shown 20 to a page with the correct answer and an explanation on each.

Does every Genetic Disorders MCQ have an explanation?

Yes. Each Genetic Disorders question shows the correct option and a written explanation of why it is correct, so a wrong answer teaches you something rather than just being marked wrong.

Can I take a timed Genetic Disorders test?

Yes. The practice button on this page starts a free Genetic Disorders test drawn from the Pathology bank. It marks each answer instantly, gives you a score at the end, and can be retaken as many times as you like.