Imprinting
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Imprinting
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Imprinting disorders include Prader-Willi and Angelman Syndromes, congenital diseases affecting expression of genes on chromosome 15. Prader-Willi Syndrome occurs when the maternal gene is imprinted (and hence silent) and the paternal gene is mutated, and classically presents with hyperphagia and hypoplastic/undescended testicles. Angelman Syndrome occurs when the paternal gene is imprinted and the maternal gene is mutated, and presents with inappropriate laughter ("happy puppet syndrome") and severe cognitive disability.