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[The Angelman syndrome. Does the phenotype depend on maternal inheritance?].

Ugeskrift for laeger - 8 Jul 1991

Lund A M

Abstract excerpt

Angelman's syndrome was described by Angelman in 1965 and since then 222 children with the syndrome have been reported: this paper reviews the clinical and cytogenetic features of these children and describes three further children with the syndrome. About one half of the cases have a cytogenetically visible deletion involving the long arm of chromosome 15, del (15) (q11-q13). Thus the deletion is cytogenetically...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 1862581

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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[The Angelman syndrome. Does the phenotype depend on maternal inheritance?].PMID 1862581Read ↗

[Angelman syndrome: clinical and genetic model].Semantic proximity Read ↗

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

Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review.Semantic proximity Read ↗

Angelman syndrome: a review of the clinical and genetic aspects.Semantic proximity Read ↗

[From the clinical to the genetic diagnosis of Prader-Willi and Angelman syndromes].Semantic proximity Read ↗

[Genetic and clinical study on 17 cases of Angelman syndrome with deletion of 15q11-13].Semantic proximity Read ↗

[Genomic imprinting and its role in Prader-Willi and Angelman syndromes].Semantic proximity Read ↗

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

Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently microcephaly and hypopigmentation than deletions.Semantic proximity Read ↗

Somatic and germ-line mosaicism of deletion 15q11.2-q13 in a mother of dyzigotic twins with Angelman syndrome.Semantic proximity Read ↗

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

Thelarche variant in a girl with Angelman syndrome.Semantic proximity Read ↗

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