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A rare congenital disorder characterized by mental disability and a tendency toward jerky movement, caused by the absence of certain genes normally present on the copy of chromosome 15 inherited from the mother.
- ‘In addition, a defective E6 - AP is implicated in Angelman's syndrome.’
- ‘Pat and his wife, Eva, have a 22-year-old daughter, Lisa, who has a profound disability called Angelman syndrome.’
- ‘The charity, based in the Edinburgh Hospital for Sick Children, provided support for Rankin and his wife Miranda when their youngest son, Kit, was diagnosed with Angelman syndrome.’
- ‘Prader-Willi syndrome and Angelman syndrome are distinct disorders that are caused by the loss of the function of genes located on the long arm of chromosome 15.’
- ‘Disruption of UBE3A causes Angelman syndrome, a complex neurological disorder characterized by mental retardation and seizures.’
1970s: named after Harold Angelman, British doctor who described the condition.
Angelman syndrome/ˈaNGɡəlmən ˌsindrōm/
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