Angelman syndrome

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An·gel·man syn·drome

[MIM*105830]

microdeletion of 15q-13, of maternal origin, resulting in mental retardation, ataxia, paroxysms of laughter, seizures, characteristic facies, and minimal speech. See: Prader-Willi syndrome.

Angelman syndrome

(ăn′jəl-mən, ān′-)

A neurodevelopmental genetic disorder characterized by ataxic movements, speech impairment, epileptic seizures, intellectual disability, and frequent laughter.

Angelman syndrome

A rare autosomal recessive form of infantile epilepsy (OMIM:234400) characterised by seizures, profound mental retardation, microcephaly (occasionally), unilateral cerebral atrophy, flattened occiput, large mandible, protruding jaw and tongue, a smiling open-mouthed facial expression, paroxysms of inappropriate laughter, gait ataxia, and spastic “bouncing” movements of the extremities (likened to those of a marionette).

An·gel·man syn·drome

(an'jĕl-măn sin'drōm)

Genetic condition characterized by mental retardation, seizures, ataxic gait, jerky movements, lack of speech, and frequent smiling or laughing.

Angelman,

Harry, 20th century English physician.

Angelman syndrome - recessive gene causing motor dysfunction, mental retardation, hypotonia. Synonym(s): happy puppet syndrome

An·gel·man syn·drome

(an'jĕl-măn sin'drōm) [MIM*105830]

Microdeletion of 15q-13, of maternal origin, resulting in mental retardation, ataxia, paroxysms of laughter, seizures, characteristic facies, and minimal speech.

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References in periodicals archive ?

When he was 21/2, doctors finally told Pam, 48, and her husband Malcolm, 50, that their son suffered from Angelman's Syndrome. He would never talk or walk, they said.

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..

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. (It is important to note that not all Angelman's children have this deletion of the 15th chromosome.)

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. Mol Diagn 2000;5:239-43.

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.