Table 2.
Summary of the results of array-MLPA and karyotype analysis
| Sample ID | Array-MLPA | Karyotype | Sample type |
|---|---|---|---|
| N1-N53 | Normal 13, 18, 21, X, Y | 46,XY | |
| N54-N85 | Normal 13, 18, 21, X | 46,XX | |
| B1-B4 | Monosomy X | 45,X | |
| B5-B6 | Monosomy X+TSPY signals | 45,X/45,X,+mar? | |
| B7 | Monosomy X+RBMY, TSPY signals | 45,X/46,XY | |
| B8-B9 | Monosomy X+ RBMY, TSPY signals | 45,X/46,XY(Yq-?) | |
| B10 | Abnormal monosomy X (XR = 0.71) | 45,X/46,X,i(X)(q10) | |
| B11 | Abnormal monosomy X (XR = 0.72) | 45,X/47,XXX | Blood |
| B12-B29 | Trisomy 21 (21R = 1.36 to1.62) | 47,XX,+21 | |
| B30 | Normal 13, 18, 21, X, Y | 46,XY,rec(14)(18qter→18q22::14qter)pat | |
| B31-B72 | Trisomy 21 (21R = 1.37 to1.56) | 47,XY,+21 | |
| B73 | Male with extra X | 47,XXY | |
| B74 | Normal 13, 18, 21, X | 46,XX,-14,+t(14;21);(p11.2;p11.2) | |
| B75 | Normal 13, 18, 21, X, Y | 46,XY,inv(9)(p12q21) | |
| B76 | Normal 13, 18, 21, X, Y | 46,XY,t(1;7)(p36.3;p13) | |
| A1-A4 | Trisomy 21 (21R = 1.38 to1.52) | 47,XX,+21 | Amniotic fluid |
| A5-A9 | Trisomy 21 (21R = 1.38 to1.53) | 47,XY,+21 | |
| A10-A11 | Male with extra X (XR = 0.85, YR = 0.51) | 47,XXY | |
| A12 | Normal 13, 18, 21, X, Y | 46,XY | |