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Article

Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype.

European journal of human genetics : EJHG - 1 Dec 2008

Bonaglia Maria Clara, Ciccone Roberto, Gimelli Giorgio, Gimelli Stefania, Marelli Susan, Verheij Joke, Giorda Roberto, Grasso Rita, Borgatti Renato, Pagone Filomena, Rodrìguez Laura, Martinez-Frias Maria-Luisa, van Ravenswaaij Conny, Zuffardi Orsetta

Abstract excerpt

Most patients with an interstitial deletion of 6q16 have Prader-Willi-like phenotype, featuring obesity, hypotonia, short hands and feet, and developmental delay. In all reported studies, the chromosome rearrangement was detected by karyotype analysis, which provides an overview of the entire gen...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18648397
DOI: 10.1038/ejhg.2008.119

Genes

GRIK2
MCHR2
POPDC3
SIM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18648397-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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