Case | Karyotype | SNP-array results | Prenatal ultrasound | Postnatal outcome |
---|---|---|---|---|
1 | 47,XXX | arr[hg19] (X) × 3 | FGR | TP |
2 | 47,XXX | arr[hg19] (X) × 3 | FGR | TP |
3 | 45,X | arr[hg19] (X) × 1 | FGR | TP |
4 | 47,XX, + 9[15]/46,XX[8] | arr[hg19] (9) × 2 ~ 3 | FGR | TP |
5 | 47,XXX[62]/45,X[18] | Normal | FGR | TP |
6 | 47,XX,psvidis(9)(q12)[39]/46,XX[11] | arr[hg19] 9p24.3q13(208,454–68,216,577) × 4 | FGR | TP |
7 | 46,XX,dup(12)(q14q23) | arr[hg19] 12q14.2q23.1(64,877,459–97,710,202) × 3 | FGR, thickened nuchal translucency | TP |
8 | 47,XY, + 21 | arr[hg19](21) × 3 | FGR, VSD | TP |
9 | 47,XX, + 21 | arr[hg19](21) × 3 | FGR, VSD, renal parenchyma echo enhancement | TP |
10 | 47,XX, + 18 | arr[hg19](18) × 3 | FGR, VSD | TP |
11 | 47,XX, + 18 | arr[hg19](18) × 3 | FGR, VSD, nasal bones small, overlapping fingers | TP |
12 | 46,XY,add(16)(p13.3) | arr[hg19]16p13.3(85,880–536,631) × 3 | FGR, VSD | TP |
13 | 46,XY,del(4)(p15) | arr[hg19] 4p16.3p15.1(68,345–35,252,743) × 1 | FGR, small kidneys | TP |
14 | 46,XX,add(12)(q24) | arr[hg19]11q23.2q25(113,998,447–134,937,416) × 3, 12q24.33(133,718,370–133,777,562) × 1 | FGR, small mandible, mandible retraction | TP |