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Article

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions.

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

Rosenfeld Jill A, Crolla John A, Tomkins Susan, Bader Patricia, Morrow Bernice, Gorski Jerome, Troxell Robin, Forster-Gibson Cynthia, Cilliers Deirdre, Hislop R Gordon, Lamb Allen, Torchia Beth, Ballif Blake C, Shaffer Lisa G

Abstract excerpt

Monosomy 1p36 is the most common terminal deletion syndrome seen in humans, occurring in approximately 1 in 5,000 live births. Common features include mental retardation, characteristic dysmorphic features, hypotonia, seizures, hearing loss, heart defects, cardiomyopathy, and behavior abnormalities. Similar phenotypes are seen among patients with a variety of deletion sizes, including terminal and interstitial...

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

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Source

Identifiers

PMID: 20635359
DOI: 10.1002/ajmg.a.33516

Genes

GABRD
PRKCZ
SKI

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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