Table 4 Chromosomal abnormalities detected by karyotype and their corresponding CNV-Seq results in the samples detected by both karyotype analysis and CNV-Seq
Categories Of Variation | Karyotype | CNV-Seq | Consistency of the two results | Number | Pregnancy outcome |
|---|---|---|---|---|---|
Deletion/Duplication | 45,X | del(Yp11.32q11.21,14.54Â M) | Yes | 1 | Live birth |
Deletion/Duplication | 46,XX, add(13)(q33) | dup(1q43q44,7.77Â M) | No | 1 | Termination |
Deletion/Duplication | 46,XX, del(1)(p32p22) | del(1p32.1p22.2,28.03Â M) | Yes | 1 | Termination |
Deletion/Duplication | 46,XX, del(18)(q22.1q23) | del(18q22.1q23,13.67Â M) | Yes | 1 | Termination |
Deletion/Duplication | 46,XX, del(6)(q26q27) | del(6q26q27,8.24Â M) | Yes | 1 | Termination |
Deletion/Duplication | 46,XY, del(15)(q11.2q13) | del(15q11.2q13.1,5.72Â M) | Yes | 1 | Termination |
Deletion/Duplication | 46,XY, del(5)(p14) | del(5p15.33p14.2,23.65Â M) | Yes | 1 | Termination |
Deletion/Duplication | 47,XX, der(3;11;13)t(3;13;9;11)(p13;p12;q31;p15.5),+13mat | dup(9p24.3q31.1,102.76Â M) | Yes | 1 | Termination |
Translocation | 46,XY, t(11;22)(q25;q13)mat | dup(16p13.13p13.13,104.12Â K) | No | 1 | Live birth |
Translocation | 46,XY, t(3;7)(p14;p21)pat | dup(1p31.1p31.1,223.36Â K) | No | 1 | Live birth |
Translocation | 46,XY, t(6;19)(p21.1;q13.4) | dup(1p31.1p22.3,116.60Â K) | No | 1 | Live birth |
Mosaicism | 46,XY, del(11)(q23)[9]/46,XY[11] | dup(1q44q44,523.83Â K) | No | 1 | Live birth |
Mosaicism | 45,X[55]/46,XY[33] | del(Yp11.32q11.221,19.54Â M) | Yes | 1 | Termination |
Mosaicism | 45,X[21]/46,X, add(X)(p22.3)[38]/46,XX[105] | del(Xp22.33p22.33,3.64Â M) | No | 1 | Termination |
Mosaicism | 47,XXX[2]/46,XX[105] | del(15q11.2q11.2,860.54Â K) | No | 1 | Termination |
Mosaicism | 47,XY,+mar[30]/46,XY[35] | dup(2q11.2q11.2,1.15Â M) | No | 1 | Termination |
Aneuploidy | 47,XX,+13 | T13 | Yes | 2 | Termination |
Aneuploidy | 47,XY,+18 or 47,XX,+18 | T18 | Yes | 4 | Termination |
Aneuploidy | 47,XY,+21 or 47,XX,+21 | T21 | Yes | 19 | Termination |
Aneuploidy | 47,XXY | XXY | Yes | 4 | Termination |
Aneuploidy | 47,XXX | XXX | Yes | 3 | 1 Live birth and 2 Termination |
Aneuploidy | 47,XYY | XYY | Yes | 2 | 1 Live birth and 1 NA |