Case No | Sex | Karyotype (%) [%] | SRY Variants | Histology of the gonads | UGT | OT | NGT | Other | NA | Age biopsy/gonadectomy | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|
T | O | S # | Years | |||||||||
1 | F | 45X/46XY (10%:90%) [58%/42%] |  |  |  | + (L + R) |  |  |  |  |  | 17 |
2 | M | 45,X/46,X,der(Y)(pter-q11.2::q11.2-pter) (44%:56%) [T:71%/29%; UGT: 63%/37%] | Â | + (R) | Â | Â | + (L) | Â | Â | Â | Â | 6 months |
3 | F | 45X/46XY (56%:44%) [Y present§] |  |  |  |  | + (GB) (L) |  |  |  |  | 17 |
4 | M | 45X/46X iso Y (NA) [96%/4%] | Â | Â | Â | + (L) | Â | Â | Â | Â | Â | 6 months |
5 | F | 45X/46XY (50%:50%) [NA] | Â | Â | Â | + (R) | Â | Â | Â | Â | Â | 16 |
6 | F | 45X/46X iso Y (NA) [NA] |  |  |  | + (L + R) |  |  |  |  |  | 1 |
7 | M | 45X/46XY (NA) [NA] | Â | Â | Â | Â | Â | Â | + (R) | Â | Â | 1 |
8 | M | 45X/46XY (50%:50%) [NA] | Â | + (R) & | Â | Â | Â | Â | Â | Â | Â | 9 months |
9 | M | 45X/46XY (NA) [NA] | Â | Â | Â | Â | Â | Â | Â | Â | + | NA |
10 | F | 45X/46XY (NA) [NA] |  |  |  | + (L + R) |  |  |  |  |  | 15 |
11 | M | 45X/46XY (NA) [NA] | Â | Â | Â | Â | Â | Â | Â | Â | + | 3 |
12 | F | 46XX/46XY (94%:6%) [T:16%/84%; O: 68%/32%] | Â | Â | Â | Â | Â | + (NA) | Â | Â | Â | 1 |
13 | M | 45X/46XY (NA) [NA] | Â | Â | Â | Â | Â | Â | Â | Â | + | 5 |
14 | M | 45X/46XX/46XY (39%:49%:12%) [NA] | c.49delT 21% | + (L) | Â | Â | Â | Â | Â | Â | Â | 3 |
Reference | Sex | Karyotype (%) [%} | SRY Variants | T | O | S | UGT | OT | NGT | Other | NA | Years |
[23] | F | 45X/46XXY (65%/35%) [NA@] | p. Y3X |  | + (L + R) ‡ |  |  |  |  |  |  | NA |
[11] | F | 45X/46XY (82%/18%) [L:94%/6% R:98%/2% €] | p.S18N |  |  | + (L + R) †|  |  |  |  |  | 17 |
[11] | F | 45X/46X mar (Y) (95.5%/0.5%) [100%/0% €] | p.S18N |  |  | + (L + R) †|  |  |  |  |  | 14 |
[21] | F | 45X/46X psu dic (Y)(pter-q11::q11-pter) (40%/60%) [NA@] | p.R59G |  |  | + (L + R) |  |  |  |  |  | 24 |
[12] | F | 45X/46XY (80%/20%) [NA] | p.N82X | Â | Â | + (NA) * | Â | Â | Â | Â | Â | 24 |
[12] | F | 45X/46XY (86%/14%) [NA] | p.L159TfsX167 | Â | Â | + (NA) * | Â | Â | Â | Â | Â | 20 |
[12] | F | 45X/46XY (89%/11%) [NA] | p.Q74H |  |  | + (L + R) |  |  |  |  |  | 22 |
[14] | F | 45X/46XY (15%/85%) [NA] | rs11575897 |  |  |  |  |  |  | + (GB) (L + R) $ |  | 13.5 |