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Only few reports on deletions including the whole<jats:italic>FBN1<\/jats:italic>gene, detected by molecular cytogenetic techniques, were found in literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We report here on a female patient with clinical symptoms of the MFS spectrum plus craniostenosis, hypothyroidism and intellectual deficiency who presents a 1.9 Mb deletion, including the<jats:italic>FBN1<\/jats:italic>gene and a complex rearrangement with eight breakpoints involving chromosomes 6, 12 and 15.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>This is the first report of MFS with a complex chromosome rearrangement involving a deletion of<jats:italic>FBN1<\/jats:italic>and contiguous genes. In addition to the typical clinical findings of the Marfan syndrome due to<jats:italic>FBN1<\/jats:italic>gene haploinsufficiency, the patient presents features which may be due to the other gene deletions and possibly to the complex chromosome rearrangement.<\/jats:p><\/jats:sec>","DOI":"10.1186\/1755-8166-5-5","type":"journal-article","created":{"date-parts":[[2012,1,19]],"date-time":"2012-01-19T19:20:34Z","timestamp":1327000834000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene"],"prefix":"10.1186","volume":"5","author":[{"given":"Mileny ES","family":"Colovati","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luciana RJ","family":"da Silva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvia S","family":"Takeno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatiane I","family":"Mancini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana R","family":"N Dutra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta S","family":"Guilherme","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cl\u00e1udia B","family":"de Mello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria I","family":"Melaragno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana B","family":"A Perez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2012,1,19]]},"reference":[{"issue":"2","key":"122_CR1","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1002\/ajmg.a.32593","volume":"149A","author":"CL Turner","year":"2009","unstructured":"Turner CL, Emery H, Collins AL, Howarth RJ, Yearwood CM, Cross E, Duncan PJ, Bunyan DJ, Harvey JF, Foulds NC: Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy. 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