1.
Am J Med Genet A
; 161A(7): 1797-802, 2013 Jul.
Artículo
en Inglés
| MEDLINE
| ID: mdl-23713051
RESUMEN
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.