Prenatal diagnosis of two cases with 2p15-p16.1 microdeletion syndrome / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To detect chromosomal aberrations in two fetuses with multiple malformation.@*METHODS@#The two fetuses were subjected to chromosomal microarray analysis (CMA) by using Affymetrix CytoScan 750K arrays. The results were analyzed by bioinformatic software.@*RESULTS@#CMA analysis suggested that both fetuses harbored pathogenic copy number variations (CNVs) in the 2p15-16.1 region, which ranged from 255 kb to 257 kb and encompassed the XPO1 and USP34 genes.@*CONCLUSION@#Deletion of the chr2 (61 659 957-61 733 075, hg19) encompassing the XPO1 and USP34 genes may underlie the multiple malformations in the two fetuses.