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Angelman syndrome

Saltos de línea: Angel|man syn|drome

Definición de Angelman syndrome en inglés:

sustantivo

[mass noun]
A rare congenital disorder characterized by mental disability and a tendency to jerky movement, caused by the absence of certain genes normally present on the copy of chromosome 15 inherited from the mother.
Example sentences
  • In addition, a defective E6 - AP is implicated in Angelman's 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.
  • Pat and his wife, Eva, have a 22-year-old daughter, Lisa, who has a profound disability called Angelman syndrome.

Origen

1970s: named after Harold Angelman ( 1915–96), the British doctor who described the condition.

Definición de Angelman syndrome en:

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Palabra del día terpsichorean
Pronunciación: ˌtəːpsɪkəˈriːən
adjective
relating to dancing