Definitions for prader-willi syndrome

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Wiktionary

  1. Prader-Willi syndrome(Noun)

    A particular human disease, caused by deletion of part of chromosome 15, and manifested by mental retardation and other problems.

U.S. National Library of Medicine

  1. Prader-Willi Syndrome

    An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)

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