PMC8225946_01
PMC8225946_02
The breakpoint of Xq27.1q27.2 duplication in our study. The upper panel shows the schematic representation of chromosome X. The red rectangle displays the genomic location of Xq27.1q27.2 on the chromosome X. The lower panel presents a magnified view of the Xq27.1q27.2 duplication (arr[hg19] chrX: 139,499,778- 141,777,782) involving the SOX3 gene.
fped-09-682846-g0001.jpg
PMC8225946_02_fped-09-682846-g0001.jpg
F1
Chromosomal microarray analysis demonstrated that the patient had a 2.2-Mb duplication in the Xq27.1q27.2 region (arr[hg19]Xq27.1q27.2:139,499,778-141,777,782) of the X chromosome (Figure 1).