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Article

Molecular mechanisms in Angelman syndrome: a survey of 93 patients.

1 Nov 1993

Abstract excerpt

Angelman syndrome (AS) results from a lack of maternal contribution from chromosome 15q11-13, arising from de novo deletion in most cases or rarely from uniparental disomy. These families are associated with a low recurrence risk. However, in a minority of families, more than one child is affected. No deletion has been found in these families, except one. The mode of inheritance in these families is autosomal...

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Identifiers

PMID: 7905534
DOI: 10.1136/jmg.30.11.895

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Related research

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Molecular mechanisms in Angelman syndrome: a survey of 93 patients.PMID 7905534Read ↗

Novel patterns of inheritance of genetic disease are illustrated by the Angelman syndrome.Semantic proximity Read ↗

Maternal origin of 15q11–13 deletions in Angelman syndrome suggests a role for genomic imprintingSemantic proximity Read ↗

Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.Semantic proximity Read ↗

Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.Semantic proximity Read ↗

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.Semantic proximity Read ↗

Angelman syndrome in an inbred family.Semantic proximity Read ↗

Genetic counseling in Angelman syndrome: The challenges of multiple causesSemantic proximity Read ↗

Distinct phenotypes distinguish the molecular classes of Angelman syndrome.Semantic proximity Read ↗

Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature.Semantic proximity Read ↗

Characterisation of interstitial duplications and triplications of chromosome 15q11-q13.Semantic proximity Read ↗

Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?Semantic proximity Read ↗

Prader-Willi and Angelman Syndromes: Mechanisms and Management.Semantic proximity Read ↗

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