Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications.

doi:10.1093/hmg/3.6.893

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Article

Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications.

Human molecular genetics - 1 Jun 1994

Buiting K, Dittrich B, Robinson W P, Guitart M, Abeliovich D, Lerer I, Horsthemke B

Abstract excerpt

Most patients with Prader-Willi syndrome have a deletion of 15q11-13 or maternal uniparental disomy for chromosome 15. The shortest region of deletion overlap is presently defined by the gene for the small nuclear ribonucleoprotein N (SNRPN). We have investigated the integrity of SNRPN as well as the methylation status of D15S63 (PW71) in two patients with apparently normal chromosomes 15 of biparental origin....

Topics

Adolescent
Autoantigens
Blotting, Southern
Child, Preschool
Chromosome Deletion
Chromosome Mapping
Chromosomes, Human, Pair 15
DNA
DNA, Satellite
Female
Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Methylation

Prader-Willi Syndrome

Ribonucleoproteins, Small Nuclear

snRNP Core Proteins

Source

Open in PubMed

Identifiers

PMID: 7951232
DOI: 10.1093/hmg/3.6.893

Genes

SNRPN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7951232-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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