Table 1

Demographic and clinical characteristics of 141 adults with 22q11.2 deletion syndrome and their 200 unaffected siblings

	22q11.2DS (n=141)		Unaffected siblings (n=200)		Analysis
	Mean	(SD)	Mean	(SD)	p Value
Demographics
Mean age for those <45 years old and alive	29.0	(6.8)	30.2	(7.0)	0.1734^*
Main phenotypic groups and features	n	(%)	n	(%)	p Value
Proportion age ≥45 years old or deceased	33	(23.4)	48	(24.0)	0.8987^†
Female sex	71	(50.4)	104	(52.0)	0.7647^†
Major congenital heart disease	60^§	(42.6)	0	(0.0)	<0.0001^‡
Mental retardation	67	(47.5)	3	(1.5)	<0.0001^‡
Schizophrenia	55	(39.0)	2	(1.0)	<0.0001^‡
Neither mental retardation nor schizophrenia	53	(37.6)	195	(97.5)	<0.0001^‡

22q11.2DS, 22q11.2 deletion syndrome.
↵* Student t test (t=1.4, df=257).
↵† Pearson's χ² test (χ²<0.1, df=1).
↵‡ Fisher's exact test.
↵§ n=48 with tetralogy of Fallot (with or without pulmonary atresia), n=6 with interrupted aortic arch type B, n=3 with pulmonary atresia, n=1 with truncus arteriosus, n=1 with double inlet left ventricle, and n=1 with ventricular septal defect and right ventricular outflow tract obstruction; n=2 (both women) with inoperable lesions.