Rare Diseases Symptoms Automatic Extraction

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

[holt-oram syndrome]

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.

Diseases presenting "her fetus harboring a heterozygous deletion encompassing the tbx5 and tbx3 genes" symptom

  • holt-oram syndrome

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