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Article

Novel patterns of inheritance of genetic disease are illustrated by the Angelman syndrome.

The Medical journal of Australia - 21 Jun 1993

Deng Z M, Woodage T, Smart R, Smith A, Trent R J

Abstract excerpt

OBJECTIVE: To characterise the molecular abnormalities present in a cohort of patients with the Angelman syndrome. METHODS: DNA samples from 10 patients with the Angelman syndrome were investigated with molecular probes. Family studies were performed by means of DNA polymorphism analysis and dens...

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Alleles
DNA
Polymorphism, Genetic
Chromosome Mapping
Adolescent
Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Child, Preschool

Chromosome Deletion

Source

Identifiers

PMID: 8326891
DOI: 10.5694/j.1326-5377.1993.tb137668.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8326891-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Novel patterns of inheritance of genetic disease are illustrated by the Angelman syndrome.PMID 8326891Read ↗

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

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

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

Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome.Semantic proximity Read ↗

Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11-q13 imprinting region.Semantic proximity Read ↗

Atypical features in Angelman syndrome due to imprinting defect of uniparental disomy of chromosome 15.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 ↗

Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression.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 ↗

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

A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype.Semantic proximity Read ↗

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