Trisomy 21 (Down’s syndrome) |
Extra chromosome 21 |
AVSD 9 |
Trisomy 18 (Edward’s syndrome) |
Extra chromosome 18 |
ASD, VSD, PDA |
Trisomy 13 (Patau’s syndrome) |
Extra chromosome 13 |
ASD, VSD, PDA |
Monosomy X (Turner’s syndrome) |
Single X chromosome in females |
VSD, CoA, Hypoplastic left heart syndrome (HLHS), Bicuspid Aortic Valve Disease (BAVD) |
DiGeorge’s syndrome |
Deletion at chromosome 22q11 |
VSD, TOF, arch abnormalities |
William Beuren syndrome |
Deletion at chromosome 7q11.23 |
SVAS, PAS, multiple arterial stenosis |
Alagille syndrome |
Multiple gene mutations |
Peripheral pulmonary hyperplasia, PS, TOF |
Char syndrome |
Mutations in the TFAP2B gene |
PDA |
Tetrasomy 22q |
Multiple gene mutations |
Total anomalous pulmonary venous drainage |
Deletion 22q11.2 |
Chromosome structural anomaly |
TOF, VSD, aortic arch anomalies |
Deletion 1p36 |
Chromosome structural anomaly |
PDA, cardiomyopathy |