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Ophthalmology · Ocular oncology
Sample itemA 2-year-old child has a white pupillary reflex (leukocoria). The gene commonly involved in the likely diagnosis is located on:
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. Chromosome 13q14
Retinoblastoma is the most common intraocular malignancy of childhood and is due to loss of the RB1 tumour suppressor gene on 13q14. Heritable cases carry a risk of second cancers such as osteosarcoma.
Option by option
A. Chromosome 13q14 (correct)
Correct.
B. Chromosome 22q12
22q12 is NF2.
C. Chromosome 11p13
11p13 is WT1, the Wilms tumour gene.
D. Chromosome 17p13
17p13 is TP53.
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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