Table 3.
Abnormal chromosome | CNVs of NIPT | No. |
1 | del1q41-1q44(223660001-248360000); del1p34.1-1p32.3(45710001-55810000) | 1 |
2 | del2p25.3-2p25.1(3460001-7210000) | 1 |
3 | dup3p26.3-3p26.1(260001-4110000)mat | 1 |
3,7 | Trisomy 3; Trisomy 7 | 1 |
4 | del4q22.1-4q22.2(89832601-94432600)mat | 1 |
del4q32.3-4q34.1(167082601-173182600)mat | 1 | |
del4p15.1-4p14(33607001-37707000)mat | 1 | |
dup4q12-4q13.1(58007701-63157700)mat | 1 | |
5 | dup5p14.3-5p14.3(19260001-23110000)mat | 1 |
dup5p14.1-5p13.3(27760001-30860000)mat | 1 | |
Trisomy 5 | 1 | |
dup5p14.3-5p13.3(23010001-30110000)mat | 1 | |
del5p15.33-5p15.31(3210001-7060000) | 1 | |
6 | dup6q12-6q12(65210001-68560000)mat | 2 |
del6q25.1-6q25.3(151110001-157460000) | 1 | |
del6q27-6q27(165210001-168660000) | 1 | |
7 | Trisomy 7 | 3 |
8 | Trisomy 8 | 2 |
del8q23.3-8q23.3(114715101-117315100) | 1 | |
del8p22-8p22(13060001-18160000) | 1 | |
9 | Trisomy 9 | 1 |
dup9q21.13-9q21.13(74960001-78060000)mat | 1 | |
del9p24.1-9p22.2(6710001-18060000) | 1 | |
10 | del10q24.32-10q25.2(103110005-112210004) | 1 |
dup10q11.22-10q11.23(48160001-51960000)mat | 3 | |
del10q11.22-10q11.23(48160001-51960000)mat | 1 | |
13 | Monosomy 13 | 1 |
14 | Trisomy 14 | 1 |
15 | Trisomy 15 | 3 |
16 | dup16p13.11-16p12.3(15560001-19160000)mat | 3 |
Trisomy 16 | 3 | |
del16p13.13-16p13.11(12060001-16160000)mat | 1 | |
18 | del18q21.33-18q23(60210001-74360000) | 1 |
Monosomy 18 | 1 | |
dup18q12.2-18q12.3(37060001-40160000) | 3 | |
19 | dup19p13.2-19p13.2(8310001-12210000)mat | 1 |
21 | del21q21.3-21q22.11(30861194-34961193)mat | 1 |
del21q21.3-21q22.3(30861194-34961193) | 1 | |
22 | dup22q11.21-22q11.22(18900001-22350004)mat | 2 |
Trisomy 22 | 1 | |
Total | 55 |
Del = deletion, Dup = duplication.