Medical genetics: imprinting overgrowth syndrome: practice question

A Anatomy 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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Anatomy · Medical genetics: imprinting overgrowth syndrome

Sample item

A newborn has macroglossia, an omphalocele, neonatal hypoglycaemia and asymmetric overgrowth of one limb. Which tumours need surveillance by regular abdominal ultrasound in childhood?

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

The answer and the reasoning

A. Wilms tumour and hepatoblastoma

Beckwith-Wiedemann syndrome results from altered imprinting at 11p15 and predisposes to embryonal tumours, chiefly Wilms tumour and hepatoblastoma. Children are screened by ultrasound.

Option by option

  • A. Wilms tumour and hepatoblastoma (correct)

    Correct. Embryonal abdominal tumours are the recognised risk in this overgrowth syndrome.

  • B. Neuroblastoma and medulloblastoma

    Neuroblastoma and medulloblastoma are not the characteristic tumours of this syndrome.

  • C. Meningioma and acoustic neuroma

    Meningioma and acoustic neuroma are linked with neurofibromatosis type 2.

  • D. Retinoblastoma and osteosarcoma

    Retinoblastoma and osteosarcoma are linked with RB1 mutation.

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 Anatomy question

What is the answer to this Anatomy question?

The best answer is A, Wilms tumour and hepatoblastoma. Beckwith-Wiedemann syndrome results from altered imprinting at 11p15 and predisposes to embryonal tumours, chiefly Wilms tumour and hepatoblastoma.

Why is "Neuroblastoma and medulloblastoma" not the answer?

Neuroblastoma and medulloblastoma are not the characteristic tumours of this syndrome.

Why is "Meningioma and acoustic neuroma" not the answer?

Meningioma and acoustic neuroma are linked with neurofibromatosis type 2.

Why is "Retinoblastoma and osteosarcoma" not the answer?

Retinoblastoma and osteosarcoma are linked with RB1 mutation.

What concept does this question test?

It tests Medical genetics: imprinting overgrowth syndrome in Anatomy. Children are screened by ultrasound.

How hard is this question?

We tag it as a multi-step question: it asks you to combine more than one idea. 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 Medical genetics: imprinting overgrowth syndrome?

Learn every nerve by its route, its muscles and what a lesion looks like at the bedside. That one habit answers a large share of questions. Then use the flashcards and the other Anatomy 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.