Table 3.

Cardiac Phenotype for 22q11DS-Positive Subjects with the SLC2A3 Duplication

ID	Gender	Inherited	Intracardiac Phenotype	Aortic Arch Phenotype
Cohort 1
6960	F	paternal	TOF, PDA	RAA, PS
5412	M	ND	TOF	PS
5393	F	ND	TOF	RAA
3920	M	ND	TOF	aberrant RSCA
3943	F	ND	TOF	RAA, aberrant LSCA
7657	F	ND	TOF	normal
5647	F	ND	TOF	normal
6522	M	ND	VSD, ASD, bicuspid aortic valve, PDA	IAAB
6953	M	ND	VSD, PFO	aberrant RSCA, IAAB
6498	F	maternal	VSD, ASD	aberrant RSCA, TGA, PS
7591	M	ND	VSD, ASD	aberrant RSCA
5646	F	ND	VSD, bicuspid aortic valve	RAA, PS
6709	M	maternal	VSD	RAA, aberrant LSCA
5650	F	ND	ASD	normal
6696	F	ND	PTA	aberrant RSCA
4248	F	maternal	normal	aberrant RSCA
6967	F	ND	normal	aberrant LSCA
7530	F	maternal	normal	aberrant RSCA
5377	M	ND	normal	normal
Cohort 2
10638	M	ND	VSD, ASD, PDA	coarctation
11025	F	ND	VSD, ASD	normal
11336	M	ND	VSD, ASD	normal
10553	M	paternal	VSD	IAAB
11964	F	botha	VSD	IAAB
10717	F	maternal	VSD	normal
11223	F	ND	VSD	normal
11914	M	ND	VSD	normal
11292	F	ND	VSD	normal
11322	M	ND	VSD	PS
10904	M	ND	ASD, PDA	normal
11327	F	ND	ASD	normal
11258	M	maternal	PDA	RAA, aberrant LSCA
11960	F	paternal	bicuspid aortic valve	aberrant RSCA
11323	F	ND	unspecified congenital heart defectb	normal
11159	F	maternal	normal	RAA, aberrant LSCA, vascular ring
12000	F	ND	normal	aberrant LSCA
10357	F	ND	normal	normal
11342	M	maternal	normal	normal
11971	F	maternal	normal	normal

Abbreviations are as follows: LSCA, left subclavian artery; RSCA, right subclavian artery; PDA, patent ductus arteriosus; PS, pulmonary atresia stenosis; PTA, persistent truncus arteriosus; RAA, right aortic arch; TGA, transposition of the great arteries; ND, DNA not available for testing.

^aMother and father both carry the SLC2A3 duplication.

^bRequired surgical intervention 3 months after birth.