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.
ABSTRACT
<p><b>OBJECTIVE</b>To determine the nature of genomic copy number variations (CNVs) in two fetuses with congenital heart defects (CHD) and explore the correlation between 3q microdeletions and CHD.</p><p><b>METHODS</b>Genomic DNA was extracted from fetal umbilical cord tissue, and chromosome copy number variations were detected by low coverage whole genome sequencing.</p><p><b>RESULTS</b>Both fetuses had microdeletions of the long arm of chromosome 3. Fetus 1 had ventricular septal defect, cleft lip and palate, and a 1.66 Mb deletion on 3q29. The deleted region encompassed all of the critical genes for 3q29 microdeletion syndrome. Fetus 2 had overriding aorta, ventricular septal defect, and a novel 240 kb deletion on 3q28.</p><p><b>CONCLUSION</b>3q29 microdeletion may result in CHD in combination with cleft lip and palate. Genomic CNVs can be detected by low coverage whole genome sequencing.</p>