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The multiple manifestations can affect all organ systems, including the hematologic system resulting in baseline lower platelet counts for individuals with 22q11.2DS and increased platelet size. In addition, there may be an associated increased risk of bleeding. Individuals with 22q11.2DS are also at increased risk of autoimmune cytopenias that can complicate the evaluation or management of other manifestations. Finally, there may be an increased risk of malignancy, although the mechanism for this risk is not fully understood. This review summarizes the currently available data on hematologic\/oncologic manifestations of 22q11.2DS and reports on our findings within a large cohort of individuals with the deletion.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38474","type":"journal-article","created":{"date-parts":[[2017,9,22]],"date-time":"2017-09-22T12:48:42Z","timestamp":1506084522000},"page":"2121-2127","source":"Crossref","is-referenced-by-count":62,"title":["The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0439-402X","authenticated-orcid":false,"given":"Michele P.","family":"Lambert","sequence":"first","affiliation":[{"name":"Department of Pediatrics Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"Department of Pediatrics University of Pennsylvania School of Medicine Philadelphia 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