Table 2.
Chromosome and FISH results on mosaic cases of common aneuploidies.
| Case No. | Sample | Karyotype Results | Aneuvysion FISH Results |
|---|---|---|---|
| 1 | AF | mos 47,XY,+21[15]/46,XY[2] | nuc ish(DXZ1x1,DYZ3x1,D18Z1x2)[40] nuc ish(RB1x2,D21S259x3)[41/50]/(RB1,D21S259)x2[9/50] |
| 2 | CV | mos 47,XX,+21[12]/46,XX[3] | nuc ish(DXZ1,D18Z1)x2[100] nuc ish(RB1x2,D21S259x3)[75/100]/(RB1,D21S259)x2[25/100] |
| 3 | CV | mos 47,XY,+21[2]/45,XY,-21[12]/46,XY[1] nuc ish(ETV6x2,RUNX1x3)[56/200]/(ETV6x2,RUNX1x1)[113/200] |
nuc ish(DXZ1x1,DYZ3x1,D18Z1x2)[100] nuc ish(RB1x2,D21S259x3)[96/100]/(RB1,D21S259)x2[4/100] |
| 4 | CV | mos 47,XX,+21[17]/47,XX,+5[3] | nuc ish(DXZ1,D18Z1)x2[30], nuc ish(RB1x2,D21S259x3)[30] |
| 5 | AF | mos 47,XX,+21[4]/46,XX[11] | nuc ish(RB1,D21S259)x2[195/200]/(RB1x2,D21S259x3)[5/200] |
| 6 | CV | mos 46,XY,i(18)(q10)[7]/46,XY[8] | nuc ish(DXZ1x1,DYZ3x1,D18Z1x2)[50] nuc ish(RB1,D21S259)x2[100] |
| 7 | CV | mos 47,XY,+18[2]/46,XY[48] | nuc ish(DXZ1x1,DYZ3x1,D18Z1x2)[88/100]/(DXZ1x1,DYZ3x1,D18Z1x3)[12/100] nuc ish(RB1x2,D21S259)x2[30] |
| AF | 46,XY.nuc ish(IGH,BCL2)x2[200] | nuc ish(DXZ1x1,DYZ3x1,D18Z1x2)[49/60]/(DXZ1x1,DYZ3x1,D18Z1x3)[11/60] | |
| 8 | CV | mos 47,XX,+13[6]/46,XX[14] | nuc ish(RB1x3,D21S259x2)[46/50]/(RB1,D21S259)x2[4/50] |
| 9 | CV | mos 45,X[5]/46,XX[15] | nuc ish(DXZ1x2)[252/300]/(DXZ1x1)[48/300] |
| 10 | CV | mos 45,X[6]/46,XX[14] | nuc ish(DXZ1x1,D18Z1x2)[7/100]/(DXZ1,D18Z1)x2[93/100] nuc ish(RB1,D21S259)x2[100] |
| 11 | CV | mos 45,X[4]/47,XXX[16] | nuc ish(DXZ1,D18Z1)x2[8/100]/(DXZ1x1,D18Z1x2)[69/100]/(DXZ1x3,D18Z1x2)[23/100] nuc ish(RB1,D21S259)x2[75] |
| 12 | AF | mos 45,X[20]/47,XXX[1] | nuc ish(DXZ1x1,D18Z1x2)[16/25]/(DXZ1x3,D18Z1x2)[9/25] nuc ish(RB1,D21S259)x2[25] |
| 13 | CV | 46,XX | nuc ish(DXZ1x2,D18Z1x2)[38/100]/(DXZ1x1,D18Z1x2)[62/100] |