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Article

An interstitial 15q11-q14 deletion: expanded Prader-Willi syndrome phenotype.

American journal of medical genetics. Part A - 1 Feb 2010

Butler Merlin G, Bittel Douglas C, Kibiryeva Nataliya, Cooley Linda D, Yu Shihui

Abstract excerpt

We present an infant girl with a de novo interstitial deletion of the chromosome 15q11-q14 region, larger than the typical deletion seen in Prader-Willi syndrome (PWS). She presented with features seen in PWS including hypotonia, a poor suck, feeding problems, and mild micrognathia. She also presented with features not typically seen in PWS such as preauricular ear tags, a high-arched palate, edematous feet,...

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

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Share to In Situ Hybridization, Fluorescence

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Source

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Identifiers

PMID: 20082457
DOI: 10.1002/ajmg.a.33197
PMCID: PMC2814996

Genes

AVEN
CHRM5
GABRB3

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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