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.