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Recently, Braddock\u2013Carey syndrome was demonstrated to be caused by chromosomal microdeletion in 21q22 including the <jats:italic>RUNX1<\/jats:italic> gene, whose haploinsufficiency is responsible for thrombocytopenia phenotype. Therefore, the syndrome has emerged as a contiguous gene deletion syndrome. Here, we describe an infant with Pierre Robin sequence, facial anomalies, congenital heart defects, hypotonia, and the absence of thrombocytopenia, who was found to have a 1.9\u2009Mb microdeletion within the Braddock\u2013Carey contiguous deletion syndrome region. This deletion spares the <jats:italic>RUNX1<\/jats:italic> gene, narrowing the genomic region responsible for a part of the Braddock\u2013Carey syndrome phenotype. Further studies are awaited to understand the role of the genes located within 21q22 in the pathogenesis of Braddock\u2013Carey syndrome. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35368","type":"journal-article","created":{"date-parts":[[2012,5,21]],"date-time":"2012-05-21T20:29:11Z","timestamp":1337632151000},"page":"1535-1541","source":"Crossref","is-referenced-by-count":17,"title":["1.9\u2009Mb microdeletion of 21q22.11 within Braddock\u2013Carey contiguous gene deletion syndrome region: Dissecting the phenotype"],"prefix":"10.1002","volume":"158A","author":[{"given":"Kosuke","family":"Izumi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan S.","family":"Brooks","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Holly A.","family":"Feret","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,5,21]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-002-0936-6"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2011.03.014"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.89"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199401000-00011"},{"key":"e_1_2_5_6_1","unstructured":"BraddockSR SchiffmanJD SarahT SouthST CareyJC.2011.Braddock\u2013Carey syndrome: A twenty year journey ends with a new microdeletion syndrome. 32nd annual David W. 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