MeSH Tree Location(s) for Prader-Willi Syndrome

Scope Note:
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)

Förklaring:
En autosomalt dominant rubbning orsakad av deletion i paternal kromosom 15(15q-q13) långa arm eller maternal nedärvning av båda kromosomerna 15 av ett par (uniparental disomi). Kliniska manifestationer inkluderar psykisk utvecklingsstörning; muskelhypotoni; överätning; fetma; kortväxthet; hypogonadism; skelning och sjukligt sömnbehov.

See also: Intellectual Disability