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Article

Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children.

Orphanet journal of rare diseases - 1 Apr 2011

Cuoco Cristina, Ronchetto Patrizia, Gimelli Stefania, Béna Frédérique, Divizia Maria Teresa, Lerone Margherita, Mirabelli-Badenier Marisol, Mascaretti Monica, Gimelli Giorgio

Abstract excerpt

BACKGROUND: terminal deletions of the distal portion of the short arm of chromosome 3 cause a rare contiguous gene disorder characterized by growth retardation, developmental delay, mental retardation, dysmorphisms, microcephaly and ptosis. The phenotype of individuals with deletions varies from normal to severe. It was suggested that a 1,5 Mb minimal terminal deletion including the two genes CRBN and CNTN4 is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21457564
DOI: 10.1186/1750-1172-6-12
PMCID: PMC3090742

Genes

CHL1
CNTN4
CRBN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children.PMID 21457564Read ↗

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