Angelman's syndrome


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Angelman's syndrome

[ān′jəl·mənz]
[Harry Angelman, English physician, 1915-1996], an autosomal-recessive syndrome characterized by jerky puppetlike movements, frequent laughter, mental and motor retardation, a peculiar open-mouthed facial expression, and seizures. It can be caused by a deletion on chromosome 15 inherited from the mother; the same deletion inherited from the father causes Prader-Willi syndrome.
References in periodicals archive ?
THE Johnston family in West Lothian, whose little boy Craig has a rare metabolic disease, will get pounds 100 and there's a further pounds 100 to the family of Zoe and Ashleigh Ryder near Cambusbarron, Stirling, who suffer from the rare Angelman's Syndrome.
He telephoned us and said that he had viewed our film and, from the manner in which Heather walked, he thought she might have Angelman's syndrome, also called the "Happy Puppet" syndrome.
In Heather's case, the G-banding analysis showed a deletion on the long arm of the 15th chromosome, which is the typical result for Angelman's syndrome.
There are many "clues" to Angelman's syndrome, but not all children have all the signs.
He also explained that Angelman's syndrome occurs in both females and males.
Validation of a multiplex methylation-sensitive PCR assay for the diagnosis of Prader-Willi and Angelman's syndromes.