Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of holt‐oram and ulnar‐mammary syndromes

Abstract

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 intrafamilial variability.