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Article

Molecular and clinical overlap of Angelman and Prader-Willi syndrome phenotypes.

American journal of medical genetics - 15 Sept 1991

Kirkilionis A J, Chudley A E, Gregory C A, Hamerton J L

Abstract excerpt

The Prader-Willi (PWS) and Angelman syndromes (AS) share the same apparent cytogenetic and molecular lesions of 15q11-13 and yet exhibit distinct clinical phenotypes. The etiology of PWS or AS appears to depend on the parental origin of the aberrant chromosome 15. Substantial clinical overlap has not been reported between deletion-positive PWS and AS patients. In the present study, we report the clinical,...

Topics

Chromosome Deletion
Chromosomes, Human, Pair 15
Densitometry
Female
Gait
Humans
Infant, Newborn
Intellectual Disability
Karyotyping
Laughter
Male
Paternity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Phenotype

Polymorphism, Restriction Fragment Length

Prader-Willi Syndrome

Syndrome

Source

Identifiers

PMID: 1684091
DOI: 10.1002/ajmg.1320400416

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1684091-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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