Genetics: Williams syndrome: practice question

A Pediatrics 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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Pediatrics · Genetics: Williams syndrome

Sample item

A child has elfin facies, outgoing personality, hypercalcaemia and supravalvular aortic stenosis. Which defect is responsible?

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

The answer and the reasoning

D. Deletion of 7q11.23 including the elastin gene

Williams syndrome is a microdeletion at 7q11.23 involving the ELN gene, which gives vascular narrowing such as supravalvular aortic stenosis. Hypercalcaemia in infancy, cocktail party personality and mild intellectual disability are typical. It is confirmed by FISH or microarray.

Option by option

  • A. Trisomy 18

    Trisomy 18 has a different phenotype.

  • B. Deletion of 5p

    5p deletion causes cri du chat syndrome.

  • C. Deletion of 22q11.2

    22q11.2 deletion causes DiGeorge syndrome.

  • D. Deletion of 7q11.23 including the elastin gene (correct)

    Correct. Elastin deletion at 7q11.23.

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 Pediatrics question

What is the answer to this Pediatrics question?

The best answer is D, Deletion of 7q11.23 including the elastin gene. Williams syndrome is a microdeletion at 7q11.

Why is "Trisomy 18" not the answer?

Trisomy 18 has a different phenotype.

Why is "Deletion of 5p" not the answer?

5p deletion causes cri du chat syndrome.

Why is "Deletion of 22q11.2" not the answer?

22q11.2 deletion causes DiGeorge syndrome.

What concept does this question test?

It tests Genetics: Williams syndrome in Pediatrics. 23 involving the ELN gene, which gives vascular narrowing such as supravalvular aortic stenosis. Hypercalcaemia in infancy, cocktail party personality and mild intellectual disability are typical. It is confirmed by FISH or microarray.

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 Genetics: Williams syndrome?

Memorise milestones and the vaccine schedule as tables and revise them often. Then use the flashcards and the other Pediatrics 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.