Table 1.

Common Syndromes Resulting from Anueploidy and Microdeletions

Syndrome	Cardiac Anomalies	% with CHD	Other Clinical Features
Trisomy 13	ASD, VSD, PDA, HLHS	80%	Microcephaly, holoprosencephaly, scalp defects, severe mental retardation, polydactyly, cleft lip or palate, genitourinary abnormalities, omphalocele, microphthalmia
Trisomy 18	ASD, VSD, PDA, TOF, DORV, CoA, BAV	90-100%	Polyhydramnios, rocker-bottom feet, hypertonia, biliary atresia, severe mental retardation, diaphragmatic hernia, omphalocele
Trisomy 21 (Down syndrome)	ASD, VSD, AVSD, TOF	40-50%	Hypotonia, developmental delay, palmar crease, epicanthal folds
Monosomy X (Turner Syndrome)	CoA, BAV, AS, HLHS	25-35%	Short stature, shield chest with widely spaced nipples, webbed neck, lymphedema, primary amenorrhea
47, XXY (Klinefelter Syndrome)	PDA, ASD, mitral valve prolapse	50%	Tall stature, hypoplastic testes, delayed puberty, variable developmental delay
22q11.2 deletion  (DiGeorge Syndrome)	IAA Type B, aortic arch anomalies, truncus arteriosus, TOF	75%	Thymic and parathyroid hypoplasia, immunodeficiency, low-set ears, hypocalcemia, speech and learning disorders, renal anomalies
7q11.23 deletion (Williams-Beuren Syndrome)	Supravalvar AS, PPS	50-85%	Infantile hypercalcemia, elfin facies, social personality, developmental delay, joint contractures, hearing loss

ASD, atrial septal defect; VSD, ventricular septal defect; PDA, patent ductus arteriosus; HLHS, hypoplastic left heart syndrome; TOF, tetralogy of Fallot; DORV, double outlet right ventricle; CoA, coarctation of aorta; BAV, bicuspid aortic valve; AVSD, atrioventricular septal defect; IAA, interrupted aortic arch; AS, aortic stenosis; PPS, peripheral pulmonic stenosis.