Table 2. MLPA results of 129 blood-contaminated AF samples.
MLPA result | n | n probes >1.3 | n probes >cutoff value | Interpretation | Karyotype (n cases) |
---|---|---|---|---|---|
Conclusive | (71 cases) | ||||
Normal XY | 44 | Normal XY | 46,XY (n=43) | ||
46,XY,der(4),t(5;9)(p13;p22) (n=1) | |||||
XY/XX | 20 | Normal XY with MCC | 46,XY (n=19) | ||
46,XY,del(13)(q22;q31) (n=1) | |||||
XY,+21 | 1 | 8 | 8 | XY,+21 | 47,XY,+21 |
XY,+21 | 1 | 6 | 8 | XY,+21 | 47,XY,+21 |
XY/XX,+21 | 1 | 2 | 8 | XY,+21 with MCC | 47,XY,+21 |
XY/XX,+18 | 1 | 1 | 6 | XY,+18 with MCC | 47,XY,+18 |
XX,+18 | 1 | 8 | 8 | XX,+18 | 47,XX,+18 |
XX,+18 | 1 | 7 | 8 | XX,+18 | 47,XX,+18 |
XX,+18 | 1 | 2 | 8 | XX,+18 with MCC | 47,XX,+18 |
Inconclusive | (58 cases) | ||||
Normal XX | 58 | Inconclusive | See Table 1 | ||
Total | 129 |