Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study.

Ye CaoZhihua Li Jill Anne RosenfeldAmber N PursleyAnkita PatelJin HuangHuilin WangMin ChenXiaofang SunTak Yeung LeungSau Wai CheungKwong Wai Choy

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)

This study not only highlights the improved detection of chromosomal defects by CMA in prenatal oral clefts but also deepens our understanding of oral clefts. The results suggest that CMA is highly recommended in prenatal invasive genetic testing not only for syndromic oral cleft cases but also for nonsyndromic cases with soft markers. Candidate genes including CRKL, AKAP8, SYDE1, BRD4 are worthy of further investigation regarding their role in human palatogenesis.Genet Med 18 10, 1052-1055.

Keyphrases

copy number
mitochondrial dna
pregnant women
endothelial cells
gene expression
clinical trial
intellectual disability
autism spectrum disorder
induced pluripotent stem cells