De novo copy number variants are associated with congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is a common birth defect with significant morbidity and mortality. In this study, we used karyotypes and chromosome microarray analysis in 256 parent-child trios to investigate the frequency of chromosomal anomalies and de novo copy number variants in CDH patients.  Sixteen (6.3 %) of the patients had cytogenetic anomalies including 3 aneuploidies, 2 unbalanced translocations, and 11 patients with de novo CNVs. Gene prioritization identified a set candidate genes including FOXC1, FOXF2, PDGFA, FGF6, COL4A1, COL4A2, SOX7, BNC1, BID, and TBX1 in these chromosomal regions for further analysis. (By Dr. Lan Yu, )

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