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

1999; Wiley; Volume: 86; Issue: 4 Linguagem: Inglês

10.1002/(sici)1096-8628(19991008)86

1096-8628

Eyal Cohen, Eva W.C. Chow, Rosanna Weksberg, Anne S. Bassett,

Congenital Heart Disease Studies

American Journal of Medical GeneticsVolume 86, Issue 4 p. 359-365 Phenotype of adults with the 22q11 deletion syndrome: A review Eyal Cohen, Eyal Cohen Schizophrenia Research Program, Queen Street Division, Centre for Addiction and Mental Health, Toronto, Ontario, CanadaSearch for more papers by this authorEva W. C. Chow, Eva W. C. Chow Schizophrenia Research Program, Queen Street Division, Centre for Addiction and Mental Health, Toronto, Ontario, Canada Department of Psychiatry, University of Toronto, Toronto, Ontario, CanadaSearch for more papers by this authorRosanna Weksberg, Corresponding Author Rosanna Weksberg Departments of Pediatrics and Genetics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, CanadaSchizophrenia Research Program, Queen Street Division, Centre for Addition and Mental Health, 1001 Queen Steet West, Toronto, Ontario M6J 1H4, CanadaSearch for more papers by this authorAnne S. Bassett, Corresponding Author Anne S. Bassett Schizophrenia Research Program, Queen Street Division, Centre for Addiction and Mental Health, Toronto, Ontario, Canada Department of Psychiatry, University of Toronto, Toronto, Ontario, CanadaSchizophrenia Research Program, Queen Street Division, Centre for Addition and Mental Health, 1001 Queen Steet West, Toronto, Ontario M6J 1H4, CanadaSearch for more papers by this author Eyal Cohen, Eyal Cohen Schizophrenia Research Program, Queen Street Division, Centre for Addiction and Mental Health, Toronto, Ontario, CanadaSearch for more papers by this authorEva W. C. Chow, Eva W. C. Chow Schizophrenia Research Program, Queen Street Division, Centre for Addiction and Mental Health, Toronto, Ontario, Canada Department of Psychiatry, University of Toronto, Toronto, Ontario, CanadaSearch for more papers by this authorRosanna Weksberg, Corresponding Author Rosanna Weksberg Departments of Pediatrics and Genetics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, CanadaSchizophrenia Research Program, Queen Street Division, Centre for Addition and Mental Health, 1001 Queen Steet West, Toronto, Ontario M6J 1H4, CanadaSearch for more papers by this authorAnne S. Bassett, Corresponding Author Anne S. Bassett Schizophrenia Research Program, Queen Street Division, Centre for Addiction and Mental Health, Toronto, Ontario, Canada Department of Psychiatry, University of Toronto, Toronto, Ontario, CanadaSchizophrenia Research Program, Queen Street Division, Centre for Addition and Mental Health, 1001 Queen Steet West, Toronto, Ontario M6J 1H4, CanadaSearch for more papers by this author First published: 22 September 1999 https://doi.org/10.1002/(SICI)1096-8628(19991008)86:4 3.0.CO;2-VCitations: 100AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Abstract 22q11 deletion syndrome (22qDS) is due to microdeletions of chromosome region 22q11.2. Little is known about the phenotype of adults. We reviewed available case reports of adults (age ≥18 years) with 22qDS and compared the prevalence of key findings to those reported in a large 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). Compared with the European survey, adults with 22qDS reviewed had a lower rate of CHD, 30% versus 75%; χ2 = 88.65, df = 1, P < 0.0001, but higher rates of identified palate anomalies, 88% versus 15%; χ2 = 37.45, df = 1, P < 0.0001, and learning difficulties, 94% versus 79%; χ2 = 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 conditions were more prevalent, 36% versus 18%; χ2= 5.71, df = 1, P < 0.02, 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 rates of learning disabilities, and other palate and facial anomalies compared with adults ascertained by other methods. The results suggest that learning 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 familial transmission are necessary to further delineate the phenotype of adults and to determine the natural history of the syndrome. Am. J. Med. Genet. 86:359–365, 1999. © 1999 Wiley-Liss, Inc. Citing Literature Volume86, Issue48 October 1999Pages 359-365 RelatedInformation