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

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 criti...

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Veröffentlicht in:	American journal of medical genetics. Part A 2009-08, Vol.149A (8), p.1661-1677
Hauptverfasser:	Wat, Margaret J., Shchelochkov, Oleg A., Holder, Ashley M., Breman, Amy M., Dagli, Aditi, Bacino, Carlos, Scaglia, Fernando, Zori, Roberto T., Cheung, Sau Wai, Scott, Daryl A., Kang, Sung-Hae Lee
Format:	Artikel
Sprache:	eng
Schlagworte:	8p23.1 deletion syndrome array comparative genomic hybridization Biological and medical sciences Chromosome Deletion Chromosomes, Human, Pair 8 - genetics Comparative Genomic Hybridization congenital heart defects diaphragmatic hernia Fatal Outcome Female GATA4 GATA4 Transcription Factor - genetics Heart Defects, Congenital - complications Heart Defects, Congenital - genetics Hernia, Diaphragmatic - complications Hernia, Diaphragmatic - genetics Hernias, Diaphragmatic, Congenital Humans Infant Infant, Newborn Karyotyping Male Medical genetics Medical sciences prenatal diagnosis
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