Index | Maternal age (years) | Gestation (w + d) | G-band | Snp array results | Ultrasound finding | Inheritance |
---|---|---|---|---|---|---|
1 | 26 | 23 + 1 | 46,XX,del(5)(p13) | arr [hg19] 5p15.33p13.3 (38,139-30,536,972)× 1 | (NIPT at 13 weeks: high risk for 5p-), Cerebellar hypoplasia |  |
2 | 27 | 24 + 2 | 46,XY,del(5)(p14) | arr [hg19] 5p15.33p14.3 (464,153-23,132,422)×1 | Dysgenesis of the cerebellar vermis |  |
3 | 43 | 16 + 6 | 46,XY,del(5)(p15) | arr [hg19] 5p15.33p15.1 (38,139-17,981,307)× 1 | Choroid plexus cyst |  |
4 | 26 | 22 | 46,XX,del(5)(p15) | arr [hg19] 5p15.33p15.31 (38,139-9,782,775)×1 | Abnormal maternal serum screening (increased β-HCG) |  |
5 | 30 | 22 + 6 | 46,XX,del(5)(p14) | arr [hg19] 5p15.33p14.3 (38,139-19,508,190)× 1 | Cystic adenomatoid malformation of the lung | de novo |
6 | 31 | 21 + 1 | 46,XX,del(5)(p14) | arr [hg19] 5p14.3p15.33 (1,151,161-20,687,905)× 1 | NF:6.8 mm | De novo |
7 | 35 | 13 + 2 | NA | arr [hg19] 5p15.33p14.3 (38,139-22,612,407)×1,13q31.2q34 (89,736,965-115,106,996)×3 | Hydrops fetalis, NT:8.7 mm |  |
8 | 27 | 29 + 0 | NA | arr [hg19] 5p15.33p15.1 (354,051-17,484,038)×1,5q34q35.3 (165,731,079-180,705,539)×3 | VSD, NF:9 mm, abnormality of lateral ventricle |  |
9 | 37 | 23 + 5 | NA | arr [hg19] 5p15.33p15.1 (560,476-17,910,453)×1, 8q24.12q24.3(119,864,143-146,293,086)× 3 | Cerebellar hypoplasia |  |
10 | 21 | 14 + 5 | 46,XX, der(5)t(5;18)(p15.2;q11.2) | arr [hg19] 5p15.33p15.2 (38,139-10,702,034)× 1,18q11.2q23(19,178,726-78,014,582)× 3 | NT:5.5 mm, abnormal heart valve morphology, absent of the nasal bone | paternal 46,XY, t(5,18)(p15.1,q11.2) |
11 | 27 | 18 | 46,XY,der(5)t(5;7)(p15;q21) | arr [hg19] 5p15.33p15.2 (38,139-12,392,815)× 1, 7q21.11q36.3 (83,599,335-159,119,486)× 3. | SUA, DLV, talipes equinovarus, abnormality of the cerebral ventricles |  |
12 | 26 | 21 + 2 | 46,XX,der(5)t(5,18)(p15.2,q12.3) | arr [hg19] 5p15.33p15.2 (560,476-14,855,659)×1, 18q12.3q23(43,354,452-78,014,582)×3. | CLP, VSD, NF:6.5 mm, (NIPT: high risk for T18) |  |