Table 1.

Chromosomal disorders that cause congenital heart diseases.

Disorder	Description	Associated Cardiac Abnormalities
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