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The<jats:italic>TBX1<\/jats:italic>gene is considered to be the major candidate gene for the main features in 22q11.2 deletion syndrome, including congenital heart malformations, (para)thyroid hypoplasia, and craniofacial abnormalities. We report on eight patients with atypical deletions of chromosome 22q11.2. These deletions comprise the distal part of the common 22q11.2 deleted region but do not encompass the<jats:italic>TBX1<\/jats:italic>gene. Ten similar patients with overlapping distal 22q11.2 deletions have been reported previously. The clinical features of these patients are described and compared to those found in the classic 22q11.2 deletion syndrome. We discuss the possible roles of a position effect or haploinsufficiency of distally located genes (e.g.,<jats:italic>CRKL<\/jats:italic>) in the molecular pathogenesis of the 22q11.2 deletion syndrome. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35517","type":"journal-article","created":{"date-parts":[[2012,8,14]],"date-time":"2012-08-14T15:35:02Z","timestamp":1344958502000},"page":"2412-2420","source":"Crossref","is-referenced-by-count":59,"title":["Phenotypic variability of atypical 22q11.2 deletions not including<i>TBX1<\/i>"],"prefix":"10.1002","volume":"158A","author":[{"given":"Judith M.A.","family":"Verhagen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin 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