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Tyrosinase positive albinism & Prader-Willi sydrome

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There is an association between tyrosinase positive albinism, caused by mutations of the P gene, and the Prader-Willi/Angelman (PW/A) syndrome.

The deletion on chromosome 15 which causes the PW/A syndrome may also destroy the P gene (located at chromosome 15q11-q13). If a patient with PW/A syndrome is hemizygous for a mutant allele of the P gene there will be an associated tyrosinase positive albinism.


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