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The rearranged material in the patient was further defined using array comparative genomic hybridization (array CGH), which revealed loss of 2Mb distal to 2q37.3 and duplication of 15Mb from 5q34\u2009\u2192\u2009qter. Fluorescence in situ hybridization (FISH) studies using subtelomeric 2q and 5q probes showed the 2q deletion and 5q duplication resulting from a rearrangement of the segment from 5q onto the long arm of chromosome 2. FISH studies of the parents did not show any rearrangement. Recently it has been proposed that an extra copy of <jats:italic>MSX2<\/jats:italic> that maps to 5q35.2 causes premature synostosis of the sutures via the MSX2\u2010mediated pathway of calvarial osteogenic differentiation. Our case further supports the role of <jats:italic>MSX2<\/jats:italic> duplication in the etiology of craniosynostosis. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32949","type":"journal-article","created":{"date-parts":[[2009,6,16]],"date-time":"2009-06-16T22:52:52Z","timestamp":1245192772000},"page":"1544-1549","source":"Crossref","is-referenced-by-count":21,"title":["Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of <i>MSX2<\/i> with 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