Table 2.
Malformations identified by SNP array
| Patient | Heart disease | Extracardiac malformations | Chromosomal abnormalitiy | Genomic position | Location | Size, bp | Genes involved | Inheritance | Classification |
|---|---|---|---|---|---|---|---|---|---|
| G13. 1 | VSD, PDA, single lobby, interruption of the inferior vena cava, single valve with regurgitation | DD | duplication | arr[hg19] 15q13.1(29,057,675 – 29,531,305)×3 |
15q13.1 | 473.630 | LOC646278, GOLGA6L7P, APBA2, FAM189A1 | paternal | VOUS |
| deletion | arr[hg19] 5q14.3(89,511,085 – 90,121,361)×1 |
5q14.3 | 610.276 | CETN3, MBLAC2, POLR3G, LYSMD3, GPR98 | paternal | VOUS | |||
| G14. 1 | CoA | facial dysmorphism, genital abnormalities, renal dysfunction | deletion | arr[hg19] 22q11.22(22,311,348 – 22,579,064)×1 |
22q11.22 | 267.716 | TOP3B | not maternal* | VOUS |
| duplication | arr[hg19] 15q11.2 (22,770,421 – 23,214,339)×3 | 15q11.2 (BP1–BP2) |
443.918 | TUBGCP5, CYFIP1, NIPA2, NIPA1, LOC283683, WHAMMP3 | undetermined | probably pathogenic (susceptibility locus) | |||
| G15.1 | ASD, single lobby, AVSD | facial dysmorphism | duplication | arr[hg19] 7q35 (144,319,952 – 44,519,740)×3 | 7q35 | 199.788 | TPK1 | undetermined | VOUS |
| G16.1 | PDA | facial dysmorphism, DD | deletion | arr[hg19] 9q31.2(112,190,883 – 12,248,027)×1 |
9q31 | 57.144 | PTPN3 | undetermined | VOUS |
ASD, atrial septal defect; AVSD, atrioventricular septal deviation; CoA, coarctation of the aorta; DD, developmental delay; PDA, patent ductus arteriosus; VOUS, variant of unknown significance; VSD, ventricular septal defect.
*
Paternal sample not available.