genetics

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Familial cases of retinoblastoma are autosomal dominant with 90% penetrance. The disrupted locus is on chromosome 13. Prenatal diagnosis is possible using linkage studies and restriction fragment length polymorphisms.

For sporadic unilateral cases, the risk to siblings is 1.6% and to offspring is 6%. Despite these relatively minimal odds, at-risk children should have regular ophthalmological screening until their mid-teens.

Last reviewed 01/2018

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