Comparison of the karyotypes of patients carrying Yq11 terminal deletions detected by cytogenetic (published data) and fluorescence in situ hybridisation analysis (our data). In patient ITA1, metaphase spreads were prepared from peripheral blood leucocytes, in patients WL87-6, HG235, and 1069 metaphase spreads were prepared from EBV transformed cell lines
| Patients | Cytogenetic analysis | FISH analysis | |||||
|---|---|---|---|---|---|---|---|
| Karyotype | X0 mosaicism | Karyotype | X0 mosaicism | SHOX | |||
| WL87-6 | 46,XYq− | None | 46,Xdic(Yp) | 46,XY/45,X0 (84%/16%) | 3 copies | ||
| HG235 | 46,Xr(Y) | None | 46,Xr(Y) | 46,XY/45,X0 (94%/6%) | 1 copy | ||
| 1069 | 46,XYq− | None | 46,Xdic(Yp) | 46,XY/45,X0 (67%/33%) | 3 copies | ||
| ITA1 | 46,XYq− | None | 46,Xr(Y)? | 46,XY/45,X0 (82%/18%) | 1 copy | ||
| 1068 | 46,XYq− | None | Not available | ||||