Larynx and airway: cri du chat syndrome: practice question

A ENT 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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ENT · Larynx and airway: cri du chat syndrome

Sample item

A newborn has a high-pitched cat-like cry, microcephaly, hypertelorism and low-set ears. What is the cytogenetic abnormality?

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

The answer and the reasoning

D. Deletion of the short arm of chromosome 5

Cri du chat syndrome results from deletion of 5p and is characterised by a mewing cry due to laryngeal hypoplasia and abnormal laryngeal development, with intellectual disability. The cry usually disappears with age. Trisomy 21 gives Down syndrome.

Option by option

  • A. Trisomy 21

    Trisomy 21 gives hypotonia and typical facies.

  • B. Deletion of chromosome 22q11

    22q11 deletion gives DiGeorge syndrome.

  • C. Trisomy 18

    Trisomy 18 gives Edwards syndrome with rocker-bottom feet.

  • D. Deletion of the short arm of chromosome 5 (correct)

    Correct. A 5p deletion.

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 ENT question

What is the answer to this ENT question?

The best answer is D, Deletion of the short arm of chromosome 5. Cri du chat syndrome results from deletion of 5p and is characterised by a mewing cry due to laryngeal hypoplasia and abnormal laryngeal development, with intellectual disability.

Why is "Trisomy 21" not the answer?

Trisomy 21 gives hypotonia and typical facies.

Why is "Deletion of chromosome 22q11" not the answer?

22q11 deletion gives DiGeorge syndrome.

Why is "Trisomy 18" not the answer?

Trisomy 18 gives Edwards syndrome with rocker-bottom feet.

What concept does this question test?

It tests Larynx and airway: cri du chat syndrome in ENT. The cry usually disappears with age. Trisomy 21 gives Down syndrome.

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 Larynx and airway: cri du chat syndrome?

Learn tuning fork results and audiogram patterns by sketching them. Then use the flashcards and the other ENT 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.