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A small subset of RSTS cases caused by 16p13.3 microdeletions involving neighboring genes have been recently suggested to be a true contiguous gene syndrome called severe RSTS or 16p13.3 deletion syndrome (OMIM 610543). In the present report, we describe a case of a 2\u2010year\u2010old female with RSTS who, besides most of the typical features of RSTS has corpus callosum dysgenesis and a Chiari type I malformation which required neurosurgical decompression. CGH microarray showed a \u223c520.7\u2009kb microdeletion on 16p13.3 involving <jats:italic>CREBBP<\/jats:italic>, <jats:italic>ADCY9<\/jats:italic>, and <jats:italic>SRL<\/jats:italic> genes. We hypothesize that the manifestations in this patient might be influenced by the haploinsufficiency for <jats:italic>ADCY9<\/jats:italic> and <jats:italic>SRL<\/jats:italic>. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33303","type":"journal-article","created":{"date-parts":[[2010,1,25]],"date-time":"2010-01-25T19:45:56Z","timestamp":1264448756000},"page":"479-483","source":"Crossref","is-referenced-by-count":25,"title":["Rubinstein\u2013Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene 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