《英文msh詞典》Syndrome,Angelman
[入口詞] Syndrome,Angelman
[主題詞] Angelman Syndrome
[英文釋義] A syndrome characterized by multiple abnormalities,MENTAL RETARDATION,and movement disorders. Present usually are skull and other abnormalities,frequent infantile spasms (SPASMS,INFANTILE); easily provoked and prolonged paroxysms of laughter (hence happy); jerky puppetlike movements (hence puppet); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)