Genetic and metabolic disorders: Down syndrome features: 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 · Genetic and metabolic disorders: Down syndrome features

Sample item

A hypotonic newborn has upslanting palpebral fissures, a single palmar crease and bilious vomiting, with a double bubble sign on abdominal X-ray. Which cardiac lesion and cytogenetic cause are most likely?

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

The answer and the reasoning

C. Endocardial cushion defect; trisomy 21 from non-disjunction

Trisomy 21 is the commonest chromosomal disorder and is usually due to meiotic non-disjunction. It is associated with endocardial cushion defect (AV canal), duodenal atresia and hypotonia.

Option by option

  • A. Tetralogy of Fallot; 22q11 deletion

    TOF and 22q11 deletion describe DiGeorge syndrome.

  • B. Coarctation of aorta; Turner syndrome

    Coarctation and Turner syndrome occur in girls with webbed neck.

  • C. Endocardial cushion defect; trisomy 21 from non-disjunction (correct)

    Correct. This is the classic Down syndrome combination.

  • D. Bicuspid aortic valve; Marfan syndrome

    Marfan syndrome has tall stature and lens subluxation.

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, Endocardial cushion defect; trisomy 21 from non-disjunction. Trisomy 21 is the commonest chromosomal disorder and is usually due to meiotic non-disjunction.

Why is "Tetralogy of Fallot; 22q11 deletion" not the answer?

TOF and 22q11 deletion describe DiGeorge syndrome.

Why is "Coarctation of aorta; Turner syndrome" not the answer?

Coarctation and Turner syndrome occur in girls with webbed neck.

Why is "Bicuspid aortic valve; Marfan syndrome" not the answer?

Marfan syndrome has tall stature and lens subluxation.

What concept does this question test?

It tests Genetic and metabolic disorders: Down syndrome features in Pediatrics. It is associated with endocardial cushion defect (AV canal), duodenal atresia and hypotonia.

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 Genetic and metabolic disorders: Down syndrome features?

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.