Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication

Table 1 Summary of the screening of the 22q11.2 region in CHD patients and their parents

Patient	Person tested	Age (yrs)	22q11.2 region	Methods used
A	Patient	17	Deletion (de novo)	MLPA, array-CGH
	Mother	47	Normal	MLPA
	Father	49	Normal	MLPA
B	Patient	20	Triplication (paternally inherited with extra copy)	MLPA, FISH, array-CGH
	Mother	61	Normal	MLPA, FISH
	Father	63	Duplication	MLPA, FISH, array-CGH
C	Patient	24	Duplication (de novo) + TOP3B duplication	MLPA, array-CGH
	Mother	55	Normal + TOP3B duplication	MLPA
	Father	58	Normal	MLPA
D	Patient	11	Deletion (de novo)	MLPA, FISH, array-CGH
	Mother	38	Normal	MLPA
	Father	39	normal	MLPA

ISSN: 2730-6844