Case no. | Karyotype | SNP array | Size (Mb) | PC | Indication | De novo/inherited | Ultrasound findings | Pregnancyoutcome |
---|---|---|---|---|---|---|---|---|
1 | 47,XX,+mar[53]/46,XX[22] | 1p13.2p11.2(115796490-121184898)×3, | 5.39 | VOUS | high risk of T21(1/230) | de novo | no abnormal changes | termination of pregnancy |
UPD(1) | / | VOUS | ||||||
2 | 47,XX,+mar[6]/46,XX[24] | 2p12q12.1(82947063-104957361)×2~3[75%] | 22.01 | VOUS | oligohydramnios | de novo | oligohydramnios | termination of pregnancy |
3 | 47,XY,+mar[7]/46,XY[38] | 3q26.31q29(172862469_197851444)×2~3[30%] | 24.99 | P | Abnormal pregnancy history | de novo | nasal bone hypoplasia | termination of pregnancy |
4 | 47,XY,+mar[30]/46,XY[9] | 4p12q13.1(46214008_60186304)×3 | 13.97 | LP | high risk of T21(1/147) | de novo | no abnormal changes | termination of pregnancy |
5 | 47,XX,+mar | 15q11.1q11.2(20161372_23300172)×4 | 3.14 | VOUS | advanced maternal age | de novo | NT4.8mm | Continued gestation |
6 | 47,XX,+mar | 15q11.2(22770421_23625785)×4 | 0.86 | VOUS | high risk of T21(1/220) | de novo | / | Continued gestation |
7 | 48,XX,+2mar[30]/47,XX, +mar[28]/46,XX[7] | 15q11.2q13.1(22754322_28969665)×2~6 | 6.22 | LP | advanced maternal age | de novo | / | termination of pregnancy |
8 | 47,XY,+mar | 18p11.32p11.21(12842_15375878)×4 | 15.36 | P | high risk of T18(NIPT) | de novo | / | termination of pregnancy |
9 | 47,XY,+mar[14]/46,XY[16] | 21q11.2q21.1(14687571-18864186)×2~4 | 4.18 | LB | high risk of T21(1/180) | mat | no abnormal changes | Continued gestation |
10 | 47,XY,+mar | 22q11.21(18648855_21464764)×4 | 2.82 | LP | NT3.4mm | de novo | pyelectasis | Continued gestation |
11 | 47,XY,+mar | 22q11.1q12.1(16079545_27421632)×3, | 11.34 | LP | high risk of T22(NIPT) | de novo | no abnormal changes | termination of pregnancy |
22q12.2q13.2(29841642_43483242)×2hmz | / | VOUS | ||||||
12 | 47,XX,+mar | normal | / | / | advanced maternal age | mat | no abnormal changes | Continued gestation |
13 | 46,X,+mar | Yq11.222q11.23(20828795_28799654)×0 | 7.97 | P | advanced maternal age | pat | no abnormal changes | Continued gestation |
14 | 46,X,+mar[17]/46,XY[15] | Yp11.31q11.23(2655180_28498354)×2, | 25.84 | VOUS | advanced maternal age | de novo | no abnormal changes | termination of pregnancy |
Yq11.23(28455408_28760588)×0 | 0.31 | P | ||||||
15 | 45,X[14]/46,X,+mar1[9]/46,X,+mar2[6] | Yq11.21q11.223(13800955_23653757)×0~1, | 9.85 | P | high risk of chr X(NIPT) | de novo | no abnormal changes | termination of pregnancy |
Yq11.223q11.23(23653757_28799654)×0 | 5.15 | P |