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.

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When he was 21/2, doctors finally told Pam, 48, and her husband Malcolm, 50, that their son suffered from Angelman's Syndrome.

THE CHIMES OF FREEDOM; Ben pulls a bell handle and is rewarded by a chime. Charlotte concentrates hard and does the same. Both laugh loudly. These may seem very minor achievements for children aged 11 and 12. But they are major triumphs for Ben and Charlotte, as ANDREA KON reports..

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.

HOSPITAL GETS A DOUBLE WHAMMY

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.

Heather's story; the long road for a family in search of a diagnosis

Validation of a multiplex methylation-sensitive PCR assay for the diagnosis of Prader-Willi and Angelman's syndromes.

Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman Syndromes

When the syndrome is not recognized, do a chromosome analysis, methylation for Prader-Willi and Angelman's syndromes, and an MRI of the head.