Genetics: Edwards 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: Edwards syndrome

Sample item

A newborn has low birth weight, prominent occiput, clenched fists with overlapping index finger, rocker-bottom feet and VSD. What is the diagnosis?

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

The answer and the reasoning

D. Trisomy 18

Edwards syndrome (trisomy 18) features overlapping fingers, rocker-bottom feet, micrognathia, low-set ears and heart defects. Most infants die within the first year. Patau syndrome (trisomy 13) shows cleft lip and palate, polydactyly and holoprosencephaly.

Option by option

  • A. Trisomy 13

    Trisomy 13 has polydactyly and midline defects.

  • B. Trisomy 21

    Trisomy 21 has hypotonia and a flat facial profile.

  • C. Turner syndrome

    Turner syndrome affects girls with webbed neck.

  • D. Trisomy 18 (correct)

    Correct. This is the picture of trisomy 18.

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, Trisomy 18. Edwards syndrome (trisomy 18) features overlapping fingers, rocker-bottom feet, micrognathia, low-set ears and heart defects.

Why is "Trisomy 13" not the answer?

Trisomy 13 has polydactyly and midline defects.

Why is "Trisomy 21" not the answer?

Trisomy 21 has hypotonia and a flat facial profile.

Why is "Turner syndrome" not the answer?

Turner syndrome affects girls with webbed neck.

What concept does this question test?

It tests Genetics: Edwards syndrome in Pediatrics. Most infants die within the first year. Patau syndrome (trisomy 13) shows cleft lip and palate, polydactyly and holoprosencephaly.

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: Edwards 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.