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

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Feb 10;37(2):186-189. doi: 10.3760/cma.j.issn.1003-9406.2020.02.022.
[Article in 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.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Deletion*
  • DNA Copy Number Variations*
  • Female
  • Humans
  • Microarray Analysis
  • Pregnancy
  • Prenatal Diagnosis*
  • Syndrome
  • Ubiquitin-Specific Proteases

Substances

  • USP34 protein, human
  • Ubiquitin-Specific Proteases