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Article

Maternal origin of deletion 15q11-13 in 25/25 cases of Angelman syndrome.

Human genetics - 1 Feb 1992

Smith J C, Webb T, Pembrey M E, Nichols M, Malcolm S

Abstract excerpt

About half of the cases of Angelman syndrome arise from deletions of chromosome band 15q12. In 25 cases we have been able to determine the parental origin of the deletion and, in line with other reported cases, we have found the deletion to be of maternal origin. There were no exceptions. The parental origin was determined using cytogenetic markers in 13 of the cases, in nine by using the pattern of inheritance...

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Source

Identifiers

PMID: 1740313
DOI: 10.1007/BF00215668

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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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Maternal origin of deletion 15q11-13 in 25/25 cases of Angelman syndrome.PMID 1740313Read ↗

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

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Comparison of the 15q deletions in Prader‐Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequencesSemantic proximity Read ↗

Molecular mechanisms in Angelman syndrome: a survey of 93 patients.Semantic proximity Read ↗

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13Semantic proximity Read ↗

False deletion of the D15S986 maternal allele in a suspected case of Angelman syndrome.Semantic proximity Read ↗

[Accurate detection of a case with Angelman syndrome (type 1) using SNP array].Semantic proximity Read ↗

Uniparental paternal disomy in Angelman's syndrome.Semantic proximity Read ↗

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