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However, the contribution of these contiguous duplicated regions to the clinical phenotypes has not been fully elucidated. In this study, we identified nine patients carrying different 22q11.2 microduplications detected by chromosomal microarray. Of these patients, seven pediatric patients presented with various clinical features including two neonate cases died shortly after birth, and two healthy adults. We examined region specific genotype\u2013phenotype associations and found unpredictability associated with 22q11.2 duplications in these nine patients.<\/jats:p>","DOI":"10.1002\/ajmg.a.61345","type":"journal-article","created":{"date-parts":[[2019,9,3]],"date-time":"2019-09-03T19:23:55Z","timestamp":1567538635000},"page":"2178-2189","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience"],"prefix":"10.1002","volume":"179","author":[{"given":"Alexander","family":"Yu","sequence":"first","affiliation":[{"name":"School of Medicine University of Texas Medical Branch  Galveston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donald","family":"Turbiville","sequence":"additional","affiliation":[{"name":"School of Medicine University of Texas Medical Branch  Galveston 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