{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T21:56:33Z","timestamp":1790632593566,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,3,22]],"date-time":"2017-03-22T00:00:00Z","timestamp":1490140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01 MH087636\u201001A1"],"award-info":[{"award-number":["R01 MH087636\u201001A1"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["PO1\u2010HD070454"],"award-info":[{"award-number":["PO1\u2010HD070454"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["1U01MH101720\u201002"],"award-info":[{"award-number":["1U01MH101720\u201002"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:sec><jats:label\/><jats:p>22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome and is underdiagnosed in diverse populations. This syndrome has a variable phenotype and affects multiple systems, making early recognition imperative. In this study, individuals from diverse populations with 22q11.2 DS were evaluated clinically and by facial analysis technology. Clinical information from 106 individuals and images from 101 were collected from individuals with 22q11.2 DS from 11 countries; average age was 11.7 and 47% were male. Individuals were grouped into categories of African descent (African), Asian, and Latin American. We found that the phenotype of 22q11.2 DS varied across population groups. Only two findings, congenital heart disease and learning problems, were found in greater than 50% of participants. When comparing the clinical features of 22q11.2 DS in each population, the proportion of individuals within each clinical category was statistically different except for learning problems and ear anomalies (<jats:italic>P\u2009<\/jats:italic>&lt;\u20090.05). However, when Africans were removed from analysis, six additional clinical features were found to be independent of ethnicity (<jats:italic>P<\/jats:italic>\u2009\u2265\u20090.05). Using facial analysis technology, we compared 156 Caucasians, Africans, Asians, and Latin American individuals with 22q11.2 DS with 156 age and gender matched controls and found that sensitivity and specificity were greater than 96% for all populations. In summary, we present the varied findings from global populations with 22q11.2 DS and demonstrate how facial analysis technology can assist clinicians in making accurate 22q11.2 DS diagnoses. This work will assist in earlier detection and in increasing recognition of 22q11.2 DS throughout the world.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38199","type":"journal-article","created":{"date-parts":[[2017,3,23]],"date-time":"2017-03-23T05:24:33Z","timestamp":1490246673000},"page":"879-888","source":"Crossref","is-referenced-by-count":120,"title":["22q11.2 deletion syndrome in diverse populations"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4949-0875","authenticated-orcid":false,"given":"Paul","family":"Kruszka","sequence":"first","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute The National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yonit A.","family":"Addissie","sequence":"additional","affiliation":[{"name":"Medical Genetics Branch, National Human Genome Research Institute The National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel E.","family":"McGinn","sequence":"additional","affiliation":[{"name":"Division of Human Genetics 22q and You Center, and Clinical Genetics Center, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio R.","family":"Porras","sequence":"additional","affiliation":[{"name":"Sheikh Zayed Institute for Pediatric Surgical Innovation Children's National Health System Washington, D.C"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elijah","family":"Biggs","sequence":"additional","affiliation":[{"name":"Sheikh Zayed Institute for Pediatric Surgical Innovation Children's National Health System Washington, D.C"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Share","sequence":"additional","affiliation":[{"name":"Division of Human Genetics 22q and You Center, and Clinical Genetics Center, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T. Blaine","family":"Crowley","sequence":"additional","affiliation":[{"name":"Division of Human Genetics 22q and You Center, and Clinical Genetics Center, The Children's Hospital of Philadelphia and the Department of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian H. Y.","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine The University of Hong Kong Hong Kong Special Administrative Region Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary T. 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