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Article

Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes.

American journal of medical genetics. Part A - 1 Jul 2013

Alby Caroline, Bessieres Bettina, Bieth Eric, Attie-Bitach Tania, Fermont Laurent, Citony Isabelle, Razavi Ferechté, Vekemans Michel, Escande Fabienne, Manouvrier Sylvie, Malan Valérie, Amiel Jeanne

Abstract excerpt

We report on a combination of congenital malformations in a mother and her fetus harboring a heterozygous deletion encompassing the TBX5 and TBX3 genes, which are disease-causing in Holt-Oram and ulnar-mammary syndromes, respectively. This contiguous gene syndrome is reminiscent of Okihiro syndrome and emphasizes the importance of array-CGH as a diagnostic tool in atypical syndromic presentations with...

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Source

Identifiers

PMID: 23713051
DOI: 10.1002/ajmg.a.36054

Genes

TBX3
TBX5

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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