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Updated: Dec 29, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
[Prenatal diagnosis of two cases with 2p15-p16.1 microdeletion syndrome]
Ting Wan1, Jing Wang, Yuwei Shang
1Prenatal Diagnosis Center, Changzhou Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Changzhou, Jiangsu 213003, China. yuanpei0818@163.com.
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.
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