[Angelman syndrome].

نویسندگان

  • S W Eber
  • S Joost
  • M Gabriel
چکیده

An eight-year-old boy with Angelman-(Happy Puppet-)Syndrome is described. Nearly all typical symptoms of the syndrome, especially severe psychomotoric retardation with spontaneous outbursts of laughing and protrusions of the tongue, athetoid movements, typical electroencephalogram and microcephaly, could be found in our patient. The incidence of the Angelman-syndrome may be underestimated.

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Angelman Syndrome

Angelman syndrome is a disorder in humans [2] that causes neurological symptoms such as lack of speech, jerky movements, and insomnia. A human cell has two copies of twenty-three chromosomes for a total of forty-six?one copy from its mother and one from its father. But in the case of Angelman syndrome, the maternal chromosome numbered 15 has a mutation or deletion in its DNA and a gene on the p...

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عنوان ژورنال:
  • Journal of medical genetics

دوره 29 6  شماره 

صفحات  -

تاریخ انتشار 1986