prader-willi syndrome : KMLE 의학 검색 엔진 - 의학사전, 의학용어, 의학약어, 의학논문, 약품/의약품 검색

MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 1 페이지: 1

Prader-Willi Syndrome - 새창 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)
Synonyms : Labhart-Willi-Prader-Fanconi Syndrome, Royer's Syndrome, Labhart Willi Prader Fanconi Syndrome, Labhart Willi Syndrome, Prader Willi Syndrome, Royers Syndrome, Syndrome, Labhart-Willi, Syndrome, Labhart-Willi-Prader-Fanconi, Syndrome, Prader-Willi