Medical genetics: practice question

A Anatomy question in the style of the NEET PG paper. Answer it first, then read why the right option is right and why each of the others is wrong.

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Anatomy · Medical genetics

Sample item

An infant with a high-pitched cat-like cry, microcephaly and hypotonia has a chromosomal abnormality. Which deletion is responsible?

Original practice item, not a recalled exam question. Nothing here is recorded.

The answer and the reasoning

B. Short arm of chromosome 5

Cri-du-chat syndrome results from a deletion of the short arm of chromosome 5 (5p-), causing the cat cry, microcephaly, hypertelorism and intellectual disability.

Option by option

  • A. Long arm of chromosome 22

    22q deletion causes DiGeorge syndrome with cardiac and thymic defects.

  • B. Short arm of chromosome 5 (correct)

    Correct. A 5p deletion produces the cry, microcephaly and hypotonia.

  • C. Short arm of chromosome 4

    4p deletion causes Wolf-Hirschhorn syndrome with a Greek warrior helmet face.

  • D. Long arm of chromosome 15

    15q deletion is linked to Prader-Willi and Angelman syndromes.

Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.

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Questions about this Anatomy question

What is the answer to this Anatomy question?

The best answer is B, Short arm of chromosome 5. Cri-du-chat syndrome results from a deletion of the short arm of chromosome 5 (5p-), causing the cat cry, microcephaly, hypertelorism and intellectual disability.

Why is "Long arm of chromosome 22" not the answer?

22q deletion causes DiGeorge syndrome with cardiac and thymic defects.

Why is "Short arm of chromosome 4" not the answer?

4p deletion causes Wolf-Hirschhorn syndrome with a Greek warrior helmet face.

Why is "Long arm of chromosome 15" not the answer?

15q deletion is linked to Prader-Willi and Angelman syndromes.

What concept does this question test?

It tests Medical genetics in Anatomy. The correct option holds because: Correct. A 5p deletion produces the cry, microcephaly and hypotonia.

How hard is this question?

We tag it as an application question: it asks you to use a fact on a patient or a finding. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

How should I study Medical genetics?

Learn every nerve by its route, its muscles and what a lesion looks like at the bedside. That one habit answers a large share of questions. Then use the flashcards and the other Anatomy questions on this site to test what stuck.

Is this a real NEET PG question?

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.