{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T00:54:32Z","timestamp":1792284872659,"version":"4.4.0"},"reference-count":23,"publisher":"Wiley","issue":"24","license":[{"start":{"date-parts":[[2007,11,13]],"date-time":"2007-11-13T00:00:00Z","timestamp":1194912000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Craniosynostosis is a common birth defect (\u223c1\/3,000 births) resulting from chromosome imbalances, gene mutations or unknown causes. We report a 6\u2010month\u2010old female with multiple sutural synostosis and prenatal onset growth deficiency, developmental delay, facial dysmorphism, congenital heart defect, and inguinal hernia. An integrated approach of standard cytogenetics, mBAND, locus\u2010specific FISH, and 75 kb resolution array\u2010CGH disclosed a complex chromosome 5 rearrangement, resulting in 3 paracentric inversions, 2 between\u2010arm insertions, and partial duplication of 5q35. An extra copy of the<jats:italic>MSX2<\/jats:italic>gene, which maps within the duplicated segment and is mutated in Boston\u2010type craniosynostosis, was confirmed by molecular cytogenetic studies. Our study confirms that early fusion of cranial sutures commonly observed in the dup(5q) syndrome is caused by triplication of the<jats:italic>MSX2<\/jats:italic>gene and strongly supports the crucial role of this gene in the development of craniofacial structures. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32092","type":"journal-article","created":{"date-parts":[[2007,11,14]],"date-time":"2007-11-14T02:16:43Z","timestamp":1195006603000},"page":"2937-2943","source":"Crossref","is-referenced-by-count":30,"title":["Syndromic craniosynostosis due to complex chromosome 5 rearrangement and<i>MSX2<\/i>gene triplication"],"prefix":"10.1002","volume":"143A","author":[{"given":"Laura","family":"Bernardini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Castori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Capalbo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vahe","family":"Mokini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Mingarelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Simi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Bertuccelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,11,28]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pharmthera.2005.03.005"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31042"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI8154"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31368"},{"key":"e_1_2_6_6_1","volume-title":"Craniosynostosis: 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