Table 1

Overview of results in different patient groups

n		Phenotype		Common ?3 Mb deletion		Proximal 1.5 Mb deletion		Distally nested deletion		Adjacent distal deletion
*One deletion includes the cat’s eye region. ctCHD, conotruncal congenital heart defect; –, not applicable; NA, not analysed; MCA/MR, multiple congenital anomalies/mental retardation; VCFS, velocardiofacial syndrome.
73		ctCHD without common deletion		–		–		0		0
200		ctCHD		33		3+1*		0		0
14		VCFS		10		1		0		0
63		Atypical “VCFS”		0		0		1		2
100		MR/MCA		0		0		NA		NA
250		MR/MCA		NA		NA		0		NA
300		MR/MCA		NA		NA		NA		0
285		Healthy controls		NA		NA		0		0