Genetics: DiGeorge 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: DiGeorge syndrome

Sample item

A neonate has hypocalcaemic seizures, an interrupted aortic arch, cleft palate and absent thymic shadow. What is the genetic cause?

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

The answer and the reasoning

C. 22q11.2 microdeletion

22q11.2 deletion syndrome (CATCH-22) causes conotruncal heart defects, abnormal facies, thymic hypoplasia (T-cell deficiency), cleft palate and hypocalcaemia from parathyroid hypoplasia. Irradiated blood products are given when transfusion is needed. Detection is by FISH or microarray.

Option by option

  • A. 15q11-13 deletion

    15q11-13 deletion causes Prader-Willi or Angelman.

  • B. 7q11.23 microdeletion

    7q11.23 deletion causes Williams syndrome.

  • C. 22q11.2 microdeletion (correct)

    Correct. The 22q11.2 deletion produces this combination.

  • D. Trisomy 13

    Trisomy 13 causes midline defects.

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 C, 22q11.2 microdeletion. 22q11.

Why is "15q11-13 deletion" not the answer?

15q11-13 deletion causes Prader-Willi or Angelman.

Why is "7q11.23 microdeletion" not the answer?

7q11.23 deletion causes Williams syndrome.

Why is "Trisomy 13" not the answer?

Trisomy 13 causes midline defects.

What concept does this question test?

It tests Genetics: DiGeorge syndrome in Pediatrics. 2 deletion syndrome (CATCH-22) causes conotruncal heart defects, abnormal facies, thymic hypoplasia (T-cell deficiency), cleft palate and hypocalcaemia from parathyroid hypoplasia. Irradiated blood products are given when transfusion is needed. Detection is 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: DiGeorge 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.