PMC10019959_01
G-banding karyotype (a, b) combined with FISH (c, d) of the young girl's peripheral blood: mos 45, X [3]/46, X, ish psu idic (Y) (q11.2) (DXZ1+) (SRY++) [37]; (b) blue arrows indicated two centromere regions. (c, d): green arrows indicated X chromosome centromeric signals, and red arrows showed two SRY-specific signals on the two distal tips of the long arm of chromosome Y.
CRIG2023-9127512.001.jpg
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fig1
G-banding karyotype analysis combined with metaphase FISH results: mos 45, X [3]/46, X, ish psu idic(Y) (q11.2) (DXZ1+) (SRY++) [37] (Figure 1) confirmed the presence of the SRY gene.
CNV-seq result: an approximately 59.37 Mb duplicated fragment in chrY: 1-59373566; in (b), the blue line represents the ratio curve and two copy numbers, corresponding to the left ordinate; the red line represents highly repetitive areas; the black line represents the region of the centromere. (a) Whole genome sequencing results. (b) chrY: 1-59373566.
CRIG2023-9127512.002.jpg
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fig2
The CNV-seq result illustrated an approximately 59.37 Mb duplicated fragment presented in chrY: 1-59373566 (Figure 2).