Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.

@article{Wat2009Chromosome8D,
  title={Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.},
  author={Margaret J Wat and Oleg A. Shchelochkov and Ashley M. Holder and Amy M Breman and Aditi I. Dagli and Carlos A Bacino and Fernando Scaglia and Roberto Zori and Sau W Cheung and Daryl A Scott and Sung-Hae Lee Kang},
  journal={American journal of medical genetics. Part A},
  year={2009},
  volume={149A 8},
  pages={1661-77}
}
Recurrent interstitial deletion of a region of 8p23.1 flanked by the low copy repeats 8p-OR-REPD and 8p-OR-REPP is associated with a spectrum of anomalies that can include congenital heart malformations and congenital diaphragmatic hernia (CDH). Haploinsufficiency of GATA4 is thought to play a critical role in the development of these birth defects. We… CONTINUE READING