Figure 1.

(A) The most frequent karyotype of Turner syndrome (TS; 45,X), Trisomy X syndrome (47,XXY), Klinefelter syndrome (KS; 47,XXY), and Double Y syndrome (47,XYY) is depicted together with karyotypically normal females (46,XX) and males (46,XY). The X chromosome and Y chromosome are shown in pink and blue color, respectively. (B) The copy number of PAR1 genes (genes located on the pseudoautosomal region 1), X and Y homologs, XCIE (genes that escape from X chromosome inactivation), and XCI (genes that are inactivated) according to karyotype. (C) The X and Y chromosome with depictions of the PAR1 genes and X and Y homologs. This figure was created with BioRender.com.