Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of holt‐oram and ulnar‐mammary syndromes. Issue 7 (24th May 2013)

• Record Type: Journal Article
• Authors: 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
• Is Part Of: American journal of medical genetics. Volume 161:Issue 7(2013:Jul.)
• Page Start: 1797
• Page End: 1802
• Publication Date: 2013-05-24
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36054
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ajmga36054-sec-0001" sec-type="section"> <p>We report on a combination of congenital malformations in a mother and her fetus harboring a heterozygous deletion encompassing the <italic>TBX5</italic> and <italic>TBX3</italic> 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 intrafamilial variability. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>