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Article

Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients.

Human molecular genetics - 1 Sept 1993

Glenn C C, Nicholls R D, Robinson W P, Saitoh S, Niikawa N, Schinzel A, Horsthemke B, Driscoll D J

Abstract excerpt

The clearest example of genomic imprinting in humans comes from studies of the Angelman (AS) and Prader-Willi (PWS) syndromes. Although these are clinically distinct disorders, both typically result from a loss of the same chromosomal region, 15q11-q13. AS usually results from either a maternal deletion of this region, or paternal uniparental disomy (UPD; both chromosomes 15 inherited from the father). PWS...

Topics

Angelman Syndrome
Chromosomes, Human, Pair 15
DNA
Female
Gene Deletion
Gene Rearrangement
Genetic Markers
Humans
Male
Methylation
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Prader-Willi Syndrome

Source

Identifiers

PMID: 8242060
DOI: 10.1093/hmg/2.9.1377

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8242060-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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