Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.

doi:10.1016/j.ajhg.2010.01.038

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Article

Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.

American journal of human genetics - 12 Mar 2010

Ballif Blake C, Theisen Aaron, Rosenfeld Jill A, Traylor Ryan N, Gastier-Foster Julie, Thrush Devon Lamb, Astbury Caroline, Bartholomew Dennis, McBride Kim L, Pyatt Robert E, Shane Kate, Smith Wendy E, Banks Valerie, Gallentine William B, Brock Pamela, Rudd M Katharine, Adam Margaret P, Keene Julia A, Phillips John A, Pfotenhauer Jean P, Gowans Gordon C, Stankiewicz Pawel, Bejjani Bassem A, Shaffer Lisa G

Abstract excerpt

Segmental duplications, which comprise approximately 5%-10% of the human genome, are known to mediate medically relevant deletions, duplications, and inversions through nonallelic homologous recombination (NAHR) and have been suggested to be hot spots in chromosome evolution and human genomic instability. We report seven individuals with microdeletions at 17q23.1q23.2, identified by microarray-based comparative...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20206336
DOI: 10.1016/j.ajhg.2010.01.038
PMCID: PMC2833380

Genes

TBX2
TBX4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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