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Article

A genetic model for the Prader-Willi syndrome and its implication for Angelman syndrome.

Human genetics - 1 Jan 2000

Kennerknecht I

Abstract excerpt

Sporadic cases of Prader-Willi syndrome (PWS) are associated with the physical absence of the paternal Prader-Willi chromosome region (PWCR) by deletion 15q11-13, by segmental maternal heterodisomy or by chromosome rearrangements resulting in homozygosity for maternal PWCR. In isolated/familial cases, it is proposed that the expression of PWS depends on the functional absence caused by mutated gene(s) within the...

Topics

Angelman Syndrome
Chromosome Deletion
Chromosomes, Human, Pair 15
Female
Humans
Male
Models, Genetic
Mutation
Pedigree
Prader-Willi Syndrome

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1427794
DOI: 10.1007/BF00210750

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1427794-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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