定义 Angelman综合征

Angelman Syndrome(AS) is a rare neuro-genetic disorder named after an English paediatrician, Dr. Harry Angelman, who first described the syndrome in 1965. 更多

Angelman Syndrome(AS) is a rare neuro-genetic disorder named after an English paediatrician, Dr. Harry Angelman, who first described the syndrome in 1965. A syndrome is number of features which occur together as a group and indicate a particular condition. AS is characterised by intellectual and developmental delay, speech impediment, sleep disturbance, unstable jerky gait, seizures, hand flapping movements, frequent laughter/smiling and usually a happy demeanour. AS is a classic example of genetic imprinting caused by deletion or inactivation of critical genes on the maternally inherited chromosome 15. The sister syndrome Prader-Willi syndrome affects paternal genes. less