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Article

Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?

American journal of medical genetics - 15 May 1994

Bottani A, Robinson W P, DeLozier-Blanchet C D, Engel E, Morris M A, Schmitt B, Thun-Hohenstein L, Schinzel A

Abstract excerpt

The Angelman syndrome (AS) is a neurological disorder characterized by severe mental retardation, absent speech, seizures, gait disturbances, and a typical age-dependent facial phenotype. Most cases are due to an interstitial deletion on the maternally inherited chromosome 15, in the critical region q11-q13. Rare cases also result from paternal uniparental disomy of chromosome 15. In a group of 14 patients with...

Topics

Adult
Angelman Syndrome
Chromosome Aberrations
Chromosomes, Human, Pair 15
DNA
Fathers
Female
Humans
Infant, Newborn
Male
Maternal Age

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Paternal Age

Phenotype

Polymerase Chain Reaction

Pregnancy, High-Risk

Source

Identifiers

PMID: 8030667
DOI: 10.1002/ajmg.1320510109

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8030667-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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