Table 1 Results of 29 cases with mosaic aneuploidy
From: Characteristics and mechanisms of mosaicism in prenatal diagnosis cases by application of SNP array
Case No | Specimen | Type of aneuploidy | Mosaic% by SNP array | Karyotype | Mosaic% by karyotype | Origin | Indication |
|---|---|---|---|---|---|---|---|
1 | Villus | T 4 | 30 | – | – | Mitosis | IFD |
2 | UCB | T 8 | 20 | 47,XY,+8[3]/46,XY[16] | 15 | Mitosis | MR in mother |
3 | Villus | T 8 | 80 | 47,XX,+8[8]/46,XX[2] | 80 | Mitosis | IFD |
4 | Villus | T 15 | 60 | 46,XY,+15,rob(15;15)(q10;q10) | 100 | Mitosis | IFD |
5 | Villus | T 16 | 20 | 47,XX,+16[8]/46,XX[2] | 80 | M I | IFD |
6 | Villus | T 16 | 30 | 47,XX,+16[3]/46,XX[7] | 30 | M I | IFD |
7 | Villus | T 16 | 20 | 47,XY,+16[3]/46,XY[7] | 30 | M I | IFD |
8 | AF | T 18 | 80 | 47,XX,+18[38]/46,XX[8] | 82.61 | M II | high T18 risk |
9 | AF | T 21 | 20 | 46,XY,+21,rob(21;21)(q10;q10)[3]/46,XY[16] | 15 | Mitosis | AMA |
10 | AF | T 21 | 20 | 47,XY,+21[1]/46,XY[49] | 2 | M II | abnormal NIPT |
11 | AF | T 21 | 70 | 47,XX,+21[32]/46,XX[9] | 76.19 | M II | high T 21 risk |
12 | UCB | T 21 | 60 | 45,XY,rob(15;21)(q10;q10) | 0 | Mitosis | ventriculomegaly |
13 | Villus | T 22 | 80 | 47,XX,+22[8]/46,XX[2] | 80 | Mitosis | IFD |
14 | Villus | T 22 | 30 | 47,XX,+22[5]/46,XX[5] | 50 | M II | IFD |
15 | Villus | T 22 | 15 | 47,XX,+22[4]/46,XX[7] | 36.36 | M I | IFD |
16 | Villus | T 2 | 100 | 47,XY,+2 | 100 | Meiosis | IFD |
T 20 | 60 | 0 | Mitosis | ||||
17 | Villus | T 7 | 50 | 48,XX,+7,+21[11]/47,XX,+21[2] | 85.71 | Mitosis | IFD |
T 21 | 70 | 100 | M I | ||||
18 | Villus | T 13 | 20 | 46,XY,rob(13;14)(q10;q10),+rob(13;14)(q10;q10) | 100 | Mitosis | IFD |
T 14 | 20 | 100 | Mitosis | ||||
19 | Villus | T 13 | 15 | 48,XY,+13,+14[4]/46,XY[1] | 80 | M II | IFD |
T 14 | 20 | 80 | M I | ||||
20 | Villus | T 14 | 30 | 48,XY,+14,+20 | 100 | Mitosis | IFD |
T 20 | 30 | 100 | Mitosis | ||||
21 | Villus | T 18 | 100 | 48,XX,+18,+22[2]/47,XX,+18[8] | 100 | M II | IFD |
T 22 | 15 | 20 | M I | ||||
22 | Villus | T 13 | 15 | 50,XX,+13,+18,+19,+21 | 100 | M II | IFD |
T 18 | |||||||
T 19 | |||||||
T 21 | |||||||
23 | Villus | M 14 | 60 | – | – | Mitosis | IFD |
24 | AF | X | 20 | 45,X[6]/46,XX[13] | 30 | Mitosis | abnormal NIPT |
25 | AF | X | 20 | 45,X[7]/46,XX[14] | 31.82 | Mitosis | AMA |
26 | AF | X | 50 | 45,X[16]/47,XXX[6] | 74 | Mitosis | AMA |
XXX | 50 | 26 | |||||
27 | UCB | X | 50 | 45,X[7]/46,XY[39] | 15.22 | Mitosis | abnormal NIPT |
28 | AF | XXY | 60 | 47,XXY[4]/46,XY[17] | 18.18 | Mitosis | AMA |
XY | 40 | 81.82 | |||||
29 | Villus | XXY | 20 | 47,XXY[14/46,XY[6] | 40 | M I | IFD |
XY | 80 | 60 |