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Article

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.

European journal of human genetics : EJHG - 1 Nov 2010

Duker Angela L, Ballif Blake C, Bawle Erawati V, Person Richard E, Mahadevan Sangeetha, Alliman Sarah, Thompson Regina, Traylor Ryan, Bejjani Bassem A, Shaffer Lisa G, Rosenfeld Jill A, Lamb Allen N, Sahoo Trilochan

Abstract excerpt

Prader-Willi syndrome (PWS) is a neurobehavioral disorder manifested by infantile hypotonia and feeding difficulties in infancy, followed by morbid obesity secondary to hyperphagia. It is caused by deficiency of paternally expressed transcript(s) within the human chromosome region 15q11.2. PWS patients harboring balanced chromosomal translocations with breakpoints within small nuclear ribonucleoprotein...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 15

Share to Comparative Genomic Hybridization

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Share to In Situ Hybridization, Fluorescence

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Source

Open in PubMed Open full text

Identifiers

PMID: 20588305
DOI: 10.1038/ejhg.2010.102
PMCID: PMC2987474

Genes

SNRPN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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