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Since that time, there have been multiple other reported patients with a similar phenotype. In addition, several reports of thrombocytopenia and developmental delay have been documented in association with deletions in the Down syndrome critical region at 21q22. The similarity of the reported cases with deletions involving 21q22 with the clinical presentation of the two patients with Braddock\u2013Carey syndrome resulted in a reinvestigation of the genetic etiology of these two patients 20 years after the original study. This investigation provides evidence that the etiology of this and other \u201cFanconi\u2010like\u201d disorders represent a newly recognized contiguous gene deletion syndrome involving 21q22 and specifically, the <jats:italic>RUNX1<\/jats:italic> gene. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37870","type":"journal-article","created":{"date-parts":[[2016,8,23]],"date-time":"2016-08-23T08:42:48Z","timestamp":1471941768000},"page":"2580-2586","source":"Crossref","is-referenced-by-count":16,"title":["Braddock\u2013Carey syndrome: A 21q22 contiguous gene syndrome encompassing <i>RUNX1<\/i>"],"prefix":"10.1002","volume":"170","author":[{"given":"Stephen R.","family":"Braddock","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Saint Louis University Saint Louis Missouri"},{"name":"SSM Cardinal Glennon Children's Hospital Saint Louis Missouri"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah T.","family":"South","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Utah Salt Lake City Utah"},{"name":"ARUP Laboratories University of Utah Salt Lake City Utah"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joshua D.","family":"Schiffman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Utah Salt Lake City Utah"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Longhurst","sequence":"additional","affiliation":[{"name":"ARUP Laboratories University of Utah Salt Lake City Utah"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leslie R.","family":"Rowe","sequence":"additional","affiliation":[{"name":"ARUP Laboratories University of Utah Salt Lake City Utah"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John C.","family":"Carey","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Utah Salt Lake City Utah"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,8,23]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199401000-00011"},{"key":"e_1_2_7_3_1","unstructured":"BraddockSR SchiffmanJD SouthST CareyJC.2011. 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