Medical genetics: von Hippel-Lindau disease: 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: von Hippel-Lindau disease

Sample item

A man has a retinal haemangioblastoma, a cerebellar haemangioblastoma and a clear cell renal carcinoma, and his father had similar tumours. On which chromosome is the responsible gene located?

A9qB3pC17qD22q

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

The answer and the reasoning

B. 3p

Von Hippel-Lindau disease is an autosomal dominant tumour suppressor syndrome caused by mutation of the VHL gene on chromosome 3p25. Loss of the second allele (two-hit) leads to tumours.

Option by option

A. 9q
9q carries TSC1.
B. 3p (correct)
Correct. VHL lies on the short arm of chromosome 3.
C. 17q
17q carries NF1 and BRCA1.
D. 22q
22q carries NF2.

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.

Questions about this Anatomy question

What is the answer to this Anatomy question?

The best answer is B, 3p. Von Hippel-Lindau disease is an autosomal dominant tumour suppressor syndrome caused by mutation of the VHL gene on chromosome 3p25.

Why is "9q" not the answer?

9q carries TSC1.

Why is "17q" not the answer?

17q carries NF1 and BRCA1.

Why is "22q" not the answer?

22q carries NF2.

What concept does this question test?

It tests Medical genetics: von Hippel-Lindau disease in Anatomy. Loss of the second allele (two-hit) leads to tumours.

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 Medical genetics: von Hippel-Lindau disease?

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.