Prenatal diagnosis of two cases with 2p15-p16.1 microdeletion syndrome

VernacularTitle:两例2p15-p16.1微缺失综合征的产前诊断
Author: Ting WAN ¹ ; Jing WANG ; Yuwei SHANG ; Jianbing LIU ; Bin YU ; Jiandong GU ; Pei YUAN
Author Information

1. 南京医科大学附属常州妇幼保健院产前诊断中心 213003
Keywords: 2p15-p16.1 microdeletion syndrome; Chromosomal microarray analysis; XPO1 gene; USP34 gene
From: Chinese Journal of Medical Genetics 2020;37(2):186-189
CountryChina
Language:Chinese
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.