Table 8.

Clinical details of 22q11.2 CNVs detected by SNP microarray.

Microarray details	Genes	TBX1/DGCR2/DGCR6/DGCR14/DGCR8	Clinical details	Other CNVs
3 mb deletion	58	Y/Y/Y/Y/Y	Male of 3+ years with tetralogy of Fallot (TOF; operated) and facial dysmorphism, broad nose, feeding difficulty, and so forth	Nil
2.5 mb deletion	65	Y/Y/Y/Y/Y	7-year-old female with TOF and dysmorphism	7q11.21 (3)
0.38 mb deletion	15	Y/N/N/N/N	1.5-year-old male with TOF	Nil
2.17 mb deletion	49	Y/Y/Y/Y/Y	34-year-old male referred from anesthesia ICU for hypoparathyroidism, hypocalcemia, recurrent fungal infection, seizure, and respiratory failure (since last 45 days)	Nil
2.9 mb deletion	69	Y/Y/Y/Y/Y	1.5-year-old male with TOF, facial dysmorphism, GDD, and speech delay	Nil
2.9 mb deletion	69	Y/Y/Y/Y/Y	45-day-old female with TOF, recurrent intractable seizure, recurrent infection, suckling difficulties, low calcium, absent thymic shadow on X-ray, and history of polyhydramnios during pregnancy	Nil
0.18 mb duplication	6	N/Y/Y/N/N	10-month-old female with CHD, frontal bossing, prominent metopic suture, hypertelorism, V shaped lip, dysplastic ear, wide spaced nipple, pectus carinatum, mid gut volvulus, and so forth	2p22.3 (3) 11p11.12 (1) 14q11.2 (3)
2.79 mb deletion	68	Y/Y/Y/Y/Y	3-year-old male with seizure, GDD, dysmorphism, high arched palate, long slender fingers, low parathyroid hormone (PTH), low calcium, recurrent infection, and so forth	Nil