Phenotype of adults with the 22q11 deletion syndrome: A review

22q11 deletion syndrome (22qDS) is due to microdeletions of chromosome regi on 22q11.2. Little is known about the phenotype of adults. We reviewed avai lable case reports of adults (age greater than or equal to 18 years) with 2 2qDS and compared the prevalence of key findings to those reported in a lar ge European survey of 22qDS (497 children and 61 adults) [Ryan et al,, 1997 : J, Med, Genet. 34:798-804], Fifty-five studies reported on 126 adults (83 women, 40 men, 3 unknown sex), mean age 29.6 years (SD = 8.7 years). Compa red with the European survey, adults with 22qDS reviewed had a lower rate o f CHD, 30% versus 75%; chi(2) = 88,65, df = 1, P < 0.0001, but higher rates of identified palate anomalies, 88% versus 15%; chi(2) = 37.45, df = 1, P < 0.0001, and learning difficulties, 94% versus 79%; chi(2) = 12.13, df = 1 , P = < 0.0008. The most common finding reported was minor facial anomalies , Few reports provided details of minor physical anomalies, Psychiatric con ditions were more prevalent, 36% versus 18%; chi(2) = 5.71, df = 1, P < 0.0 2, than in the survey: 60% of reviewed adults were transmitting parents (72 % mothers) ascertained following diagnosis of affected offspring. They had lower rates of CHD, cleft palate, and psychiatric disorders but similar rat es of learning disabilities, and other palate and facial anomalies compared with adults ascertained by other methods. The results suggest that learnin g disabilities and facial and palate anomalies may be key findings in 22qDS adults, but that ascertainment is a key factor in the observed phenotype. Comprehensive studies of adults with 22qDS identified independently of fami lial transmission are necessary to further delineate the phenotype of adult s and to determine the natural history of the syndrome, Am. J, Med, Genet. 86:359-365, 1999, (C) 1999 Wiley-Liss, Inc.