Table 1.
Comparison of karyotyping, FISH and aCGH analysis (n = 86)
| Case No | Karyotype results | FISH results | Array CGH resultse |
|---|---|---|---|
| 1–11 |
46, XX |
XX |
Normal |
| 12–13a |
46, XX |
XY |
Normal |
| 14a |
46, XX |
XY |
+5b |
| 15–35 |
46, XY |
XY |
Normal |
| 36 |
46, XY |
XY, +21 |
+21 |
| 37 |
46, XY |
XY |
+14b |
| 38 |
47, XX, +3 |
XX |
+3 |
| 39 |
47, XX, +6 |
XX |
+6 |
| 40 |
47, XY, +6 |
XY |
+6 |
| 41 |
47, XX, +7 |
XX |
+7 |
| 42 |
47, XX, +8 |
XX |
+8 |
| 43 |
47, XX, +9 |
XX |
+9 |
| 44–45 |
47, XY, +12 |
XY |
+12 |
| 46 |
47, XX, +13 |
XX, +13 |
+13 |
| 47 |
47, XX, +14 |
XX |
+14 |
| 48 |
47, XX, +15 |
XX |
+15 |
| 49-53 |
47, XX, +16 |
XX, +16 |
+16 |
| 54-62 |
47, XY, +16 |
XY, +16 |
+16 |
| 63 |
47, XY, +16 |
XY, +16/XY mosaic |
+16 |
| 64 |
47, XX, +18 |
XX, +18 |
+18 |
| 65-66 |
47,XX,+20 |
XX |
+20 |
| 67-68 |
47,XX,+21 |
XX, +21 |
+21 |
| 69 |
47,XY,+21 |
XY, +21 |
+21 |
| 70-72 |
47,XX,+22 |
XX, +22 |
+22 |
| 73 |
47,XX,+22 |
XX,+22/XX mosaic |
+22 |
| 74 |
47,XX,+22 |
XX, +22 |
+9 b ,+22 |
| 75-77 |
47,XY,+22 |
XY, +22 |
+22 |
| 78 |
46,XY,del 18p |
XY |
del 18p |
| 79 |
45,XY,-21 |
XY, -21 |
−21 |
| 80-81 |
45,X |
Monosomy X |
Monosomy X |
| 82-84 |
Triploid |
Triploid |
Normal |
| 85-86 |
Tetraploid c |
Normal |
Normal |
| All abnormal | 47d | 35 | 47 |
aonly maternal cell cultured.
bverified by QF-PCR.
cdue to a culture artifact (92,XXXX and 92,XXYY).
dexcluding two culture artifact tetraploids.
eThe sex chromosome in aCGH was in accordance with FISH analysis.