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Article

Three siblings with Prader-Willi syndrome caused by imprinting center microdeletions and review.

American journal of medical genetics. Part A - 1 Apr 2018

Hartin Samantha N, Hossain Waheeda A, Weisensel Nicolette, Butler Merlin G

Abstract excerpt

Prader-Willi syndrome (PWS) is a complex genetic imprinting disorder characterized by childhood obesity, short stature, hypogonadism/hypogenitalism, hypotonia, cognitive impairment, and behavioral problems. Usually PWS occurs sporadically due to the loss of paternally expressed genes on chromosome 15 with the majority of individuals having the 15q11-q13 region deleted. Examples of familial PWS have been reported...

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

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Methylation

Share to Genomic Imprinting

Share to In Situ Hybridization, Fluorescence

Share to Nucleic Acid Amplification Techniques

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Source

Open in PubMed Open full text

Identifiers

PMID: 29437285
DOI: 10.1002/ajmg.a.38627
PMCID: PMC6688622

Genes

SNRPN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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