TABLE 7.
The results of karyotype and SNP-array Analysis in 4022 samples.
| Classification | Detected by Karyotyping (no.) | Consistent with SNP-array results (no.) |
| Normal | 3665 | 3379a |
| Trisomy 21 | 75 | 75 |
| Trisomy 18 | 29 | 29 |
| Trisomy 13 | 9 | 9 |
| 48,XXY, +18 | 1 | 1 |
| 45,X | 5 | 5 |
| 47,XXY | 25 | 25 |
| 47,XYY | 3 | 3 |
| 47,XXX | 4 | 4 |
| 69,XXX | 2 | 2 |
| Mosaic | 19 | 13b |
| Structural rearrangement | 185 | 27c |
| Total | 4022 | 3572 |
aSNP-array analysis revealed additional 286 abnormal results including 2 cases of mosaic 45, X, 19 cases of LOH and 265 cases of microduplication/microdeletion.
b3 cases of low-level mosaic aneuploidy (47,XY, + 20[6]/46,XY[44]; 47,XX, + 18[2]/46,XX[68]; 47,XX, + 2[4]/46,XX[55]) and 3 cases of mosaic balanced structural rearrangement (46, XY,t(5;16)(q15;p10)[3]/46, XY [47]; 46,XX,t(1;3)(p10;q10)[4]/46,XX[46]; 46,X,inv(Y)(p11.2q11.23)[34]/46,X,inv(Y)(p11.2q11.23),t(1;16)(q21;q13.1)[16]) were not detected by SNP-array, while SNP-array additionally detected 1 case of LOH and 1 case of microduplication (Supplementary Figure 1).
c147 cases of structural rearrangement including balanced structural rearrangement, chromosomal heteromorphisms and marker chromosomes were not detected by SNP-array, while SNP-array additionally detected 1 case of mosaic trisomy 22 and 10 cases of microduplication/microdeletion.