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Article

FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions.

American journal of medical genetics. Part A - 15 Nov 2006

Dijkhuizen Trijnie, van Essen Ton, van der Vlies Pieter, Verheij Joke B G M, Sikkema-Raddatz Birgit, van der Veen Anneke Y, Gerssen-Schoorl Klasien B J, Buys Charles H C M, Kok Klaas

Abstract excerpt

Imbalances of 3p telomeric sequences cause 3p- and trisomy 3p syndrome, respectively, showing distinct, but also shared clinical features. No causative genes have been identified in trisomy 3p patients, but for the 3p- syndrome, there is growing evidence that monosomy for one or more of four genes at 3pter, CHL1, CNTN4, CRBN, and MEGAP/srGAP3, may play a causative role. We describe here an analysis of a complex...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17036314
DOI: 10.1002/ajmg.a.31487

Genes

CNTN4
CRBN
CHL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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