Table 1.

Malformations identified by MLPA in patients with congenital heart disease

Patients	Heart disease	Extracardiac malformations	MLPA kits			Inheritance
			P064 syndromes	P036 subtelomeric	P070 subtelomeric
G1.1*	AVSD	DD, facial dysmorphism	NC	dup Xp22.33	dup Xp22.33	paternal
G2.1	ASD, aortic valve stenosis	facial dysmorphism	DS22q11.2	NC	NC	de novo
G3.1	VSD	DD, convulsion	DS22q11.2	NC	NC	de novo
G4.1	VSD, ASD, CoA, hypoplasia of the ventricles	facial dysmorphism	DS22q11.2	NC	NC	maternal
G5.1	CoA	DD	DS22q11.2	NC	NC	maternal
G6.1	supravalvular aortic stenosis	DD, facial dysmorphism	WBS (del 7q11.23)	NC	NC	de novo
G7.1	supravalvular aortic stenosis	DD	WBS (del 7q11.23)	NC	NC	de novo
G8.1	VSD, PDA, AVSD	DD, facial dysmorphism, convulsion	WHS (del 4p16.3)	del 4p16.3 dup 8q24.3	del 4p16.3 dup 8q24.3	undetermined**
G9.1	VSD	DD, facial dysmorphism	NC	dup 18q dup 18p	dup 18q dup 18p	de novo
G10.1	ASD	DD, palpebral ptosis, microcephaly	NC	del 14q32.33	del 14q32.33	de novo
G11.1	ASD, hypoplastic left ventricle, aortic arch interruption	facial dysmorphism	NC	dup 17q25.3	dup 17q25.3	de novo
G12.1	ASD	DD, facial dysmorphism	dup 4p	del 18q23 dup 4p16	del 18q23 dup 4p16	undetermined**

ASD, atrial septal defect; AVSD, atrioventricular septal deviation; CoA, coarctation of the aorta; DD, developmental delay; DS, deletion syndrome; NC: no change; PDA, patent ductus arteriosus; VSD, ventricular septal defect; WBS, Williams-Beuren syndrome; WHS, Wolf-Hirschhorn syndrome.

^*Abnormality of uncertain significance.

^**Parental carrier status of balanced translocation not evaluated.