Larynx and airway: laryngeal web with 22q11 deletion: 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: laryngeal web with 22q11 deletion

Sample item

A neonate has a weak cry and stridor. Laryngoscopy shows an anterior glottic web, and the baby also has a ventricular septal defect, cleft palate and hypocalcaemia. Which genetic abnormality is the most likely?

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

The answer and the reasoning

A. 22q11.2 microdeletion

Anterior glottic webs are associated with 22q11.2 deletion (velocardiofacial and DiGeorge spectrum), which also causes conotruncal heart defects, palatal anomalies and hypocalcaemia from parathyroid hypoplasia. Genetic testing is therefore advised.

Option by option

  • A. 22q11.2 microdeletion (correct)

    Correct. The combination of glottic web, heart defect, palate anomaly and hypocalcaemia points to 22q11.2 deletion.

  • B. Monosomy X

    Monosomy X (Turner syndrome) features webbed neck, short stature and coarctation.

  • C. Trisomy 18

    Trisomy 18 has severe multiple anomalies but not hypocalcaemia from parathyroid aplasia.

  • D. Trisomy 21

    Trisomy 21 is linked with subglottic stenosis and laryngomalacia but not typically with this combination.

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.

More ENT questions

Questions about this ENT question

What is the answer to this ENT question?

The best answer is A, 22q11.2 microdeletion. Anterior glottic webs are associated with 22q11.

Why is "Monosomy X" not the answer?

Monosomy X (Turner syndrome) features webbed neck, short stature and coarctation.

Why is "Trisomy 18" not the answer?

Trisomy 18 has severe multiple anomalies but not hypocalcaemia from parathyroid aplasia.

Why is "Trisomy 21" not the answer?

Trisomy 21 is linked with subglottic stenosis and laryngomalacia but not typically with this combination.

What concept does this question test?

It tests Larynx and airway: laryngeal web with 22q11 deletion in ENT. 2 deletion (velocardiofacial and DiGeorge spectrum), which also causes conotruncal heart defects, palatal anomalies and hypocalcaemia from parathyroid hypoplasia. Genetic testing is therefore advised.

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: laryngeal web with 22q11 deletion?

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.