Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 161A, Issue 7, Pages 1797-1802Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.36054
Keywords
Array CGH; Holt-Oram syndrome; ulnar-mammary syndrome; contiguous gene syndrome; prenatal diagnosis
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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. (c) 2013 Wiley Periodicals, Inc.
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