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Article

Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects.

European journal of medical genetics - 1 Nov 2016

Hassan Maaz, Butler Merlin G

Abstract excerpt

We report a 20 year follow up on a Caucasian female, now 26 years of age, with Prader-Willi syndrome (PWS) harboring an atypical 15q11-q13 submicroscopic deletion of 100-200 kb in size first detected in 1996 involving the imprinting center, SNRPN gene and surrounding region. PWS is a rare complex disorder caused by the loss of paternally expressed genes in the 15q11-q13 region. With high resolution chromosomal...

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Topics

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 15
Share to DNA Methylation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genomic Imprinting

Share to In Situ Hybridization, Fluorescence

Share to Prader-Willi Syndrome

Share to RNA, Small Nucleolar

Share to snRNP Core Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 27659713
DOI: 10.1016/j.ejmg.2016.09.017
PMCID: PMC6688621

Genes

SNRPN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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