{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T10:08:35Z","timestamp":1777370915527,"version":"3.51.4"},"reference-count":15,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2008,7]]},"abstract":"<jats:p>We present the first comprehensive study, to our knowledge, on genomic chromosomal analysis in syndromic craniosynostosis. In total, 45 patients with craniosynostotic disorders were screened with a variety of methods including conventional karyotype, microsatellite segregation analysis, subtelomeric multiplex ligation-dependent probe amplification) and whole-genome array-based comparative genome hybridisation. Causative abnormalities were present in 42.2% (19\/45) of the samples, and 27.8% (10\/36) of the patients with normal conventional karyotype carried submicroscopic imbalances. Our results include a wide variety of imbalances and point to novel chromosomal regions associated with craniosynostosis. The high incidence of pure duplications or trisomies suggests that these are important mechanisms in craniosynostosis, particularly in cases involving the metopic suture.<\/jats:p>","DOI":"10.1136\/jmg.2007.057042","type":"journal-article","created":{"date-parts":[[2008,5,4]],"date-time":"2008-05-04T07:54:05Z","timestamp":1209887645000},"page":"447-450","source":"Crossref","is-referenced-by-count":32,"title":["High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation"],"prefix":"10.1136","volume":"45","author":[{"given":"F S","family":"Jehee","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A C V","family":"Krepischi-Santos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K M","family":"Rocha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D P","family":"Cavalcanti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C A","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D R","family":"Bertola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L G","family":"Alonso","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C S","family":"D\u2019Angelo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J F","family":"Mazzeu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Froyen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Lugtenberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A M","family":"Vianna-Morgante","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Rosenberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M R","family":"Passos-Bueno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2008,5,2]]},"reference":[{"key":"2025101710591974000_45.7.447.1","unstructured":"Cohen MM Jr . Craniosynostosis: diagnosis, evaluation and management , 2nd ed. New York: Oxford University Press, 2000."},{"key":"2025101710591974000_45.7.447.2","doi-asserted-by":"crossref","first-page":"1941","DOI":"10.1002\/ajmg.a.31905","article-title":"Clinical dividends from the molecular genetic diagnosis of craniosynostosis.","volume":"143A","author":"Wilkie","year":"2006","journal-title":"Am J Med Genet Part A"},{"key":"2025101710591974000_45.7.447.3","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00438.x"},{"key":"2025101710591974000_45.7.447.4","doi-asserted-by":"publisher","DOI":"10.1159\/000095922"},{"key":"2025101710591974000_45.7.447.5","doi-asserted-by":"crossref","first-page":"1912","DOI":"10.1002\/ajmg.a.31863","article-title":"An 11q11\u2013q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses.","volume":"143","author":"Jehee","year":"2007","journal-title":"Am J Med Genet A"},{"key":"2025101710591974000_45.7.447.6","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201302"},{"key":"2025101710591974000_45.7.447.7","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1002\/ajmg.a.30249","article-title":"Opitz \u201cC\u201d trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q.","volume":"131","author":"Czako","year":"2004","journal-title":"Am J Med Genet A"},{"key":"2025101710591974000_45.7.447.8","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1002\/ajmg.a.30991","article-title":"An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome.","volume":"139","author":"Jehee","year":"2005","journal-title":"Am J Med Genet A"},{"key":"2025101710591974000_45.7.447.9","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036178"},{"key":"2025101710591974000_45.7.447.10","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.032268"},{"key":"2025101710591974000_45.7.447.11","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20564"},{"key":"2025101710591974000_45.7.447.12","doi-asserted-by":"publisher","DOI":"10.1038\/ng0295-132"},{"key":"2025101710591974000_45.7.447.13","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.6.385"},{"key":"2025101710591974000_45.7.447.14","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.052191"},{"key":"2025101710591974000_45.7.447.15","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1111\/j.1399-0004.2007.00874.x","article-title":"Pure subtelomeric microduplications as a cause of mental retardation.","volume":"72","author":"Ruiter","year":"2007","journal-title":"Clin Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2007.057042","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:59:27Z","timestamp":1760723967000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2007.057042"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,5,2]]},"references-count":15,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2008,7,1]]},"published-print":{"date-parts":[[2008,7]]}},"alternative-id":["10.1136\/jmg.2007.057042"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2007.057042","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,5,2]]}}}