Genetics: sex chromosome disorders: 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: sex chromosome disorders

Sample item

A 14-year-old girl is short, has a webbed neck, a broad chest with widely spaced nipples, no breast development and primary amenorrhoea. Which cardiac lesion is associated with this condition?

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

The answer and the reasoning

B. Coarctation of the aorta and bicuspid aortic valve

Turner syndrome (45,X) causes short stature, gonadal dysgenesis with streak ovaries, webbed neck, shield chest and lymphoedema. Left-sided cardiac lesions are typical: bicuspid aortic valve and coarctation of the aorta. Renal anomalies (horseshoe kidney) and hypothyroidism are also common. Growth hormone and oestrogen replacement are used.

Option by option

  • A. Atrial septal defect secundum

    Atrioventricular septal defect is associated with Down syndrome.

  • B. Coarctation of the aorta and bicuspid aortic valve (correct)

    Correct. Left-sided obstructive lesions are characteristic of Turner syndrome.

  • C. Ebstein anomaly

    Ebstein anomaly is associated with maternal lithium exposure.

  • D. Tetralogy of Fallot

    Tetralogy of Fallot is associated with 22q11 deletion and not with Turner syndrome.

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 B, Coarctation of the aorta and bicuspid aortic valve. Turner syndrome (45,X) causes short stature, gonadal dysgenesis with streak ovaries, webbed neck, shield chest and lymphoedema.

Why is "Atrial septal defect secundum" not the answer?

Atrioventricular septal defect is associated with Down syndrome.

Why is "Ebstein anomaly" not the answer?

Ebstein anomaly is associated with maternal lithium exposure.

Why is "Tetralogy of Fallot" not the answer?

Tetralogy of Fallot is associated with 22q11 deletion and not with Turner syndrome.

What concept does this question test?

It tests Genetics: sex chromosome disorders in Pediatrics. Left-sided cardiac lesions are typical: bicuspid aortic valve and coarctation of the aorta. Renal anomalies (horseshoe kidney) and hypothyroidism are also common. Growth hormone and oestrogen replacement are used.

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: sex chromosome disorders?

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.