Transposition of the great arteries - a phenotype associated with 16p11.2 duplications?

Table 1 Known genetic associations with transposition of the great arteries

		Cytoband	Ref.
Non-syndromic	ZIC3	Xq26.3	Bamford et al[12]
	Nodal	10q22.1	Nomura et al[13]
	CFC1	2q21.1	Bamford et al[12]
	Smad2	18q21.1	Nomura et al[13]
		1p31.1	Costain et al[2]
		3q25.33-q25.32	Costain et al[2]
		4q28.3-4q28.2	Costain et al[2]
		7q21.11	Costain et al[2]
		8p22	Costain et al[2]
		12q24.33	Costain et al[2]
		13q13.1-13q13.2	Costain et al[2]
		16p12.3-16p13.11	Costain et al[2]
		16p12.2	Costain et al[2]
		Xp22.12	Costain et al[2]
		16p11.2	Current paper
Syndromic	CHARGE		Unolt et al[3]
	Deletion 11q		Jacobsen et al[14]
	Deletion 18p		Digilio et al[15]
	DiGeorge/deletion 22q11		Van Mierop et al[16]
	Heterotaxy (right isomerism)		Marino et al[17]
	Marfan syndrome		Unolt et al[3]
	Noonan syndrome		Unolt et al[3]
	Trisomy 18		Unolt et al[3]
	Trisomy 8		Unolt et al[3]
	Tuberous sclerosis		Jiang et al[18]
	Turner syndrome		Unolt et al[3]
	VACTERL		Unolt et al[3]
	Williams syndrome		Unolt et al[3]