title: Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene.
abstract: BACKGROUND
  The majority of Marfan syndrome (MFS) cases is caused by mutations in the fibrillin-1 gene (FBN1), mapped to chromosome 15q21.1. Only few reports on deletions including the whole FBN1 gene, detected by molecular cytogenetic techniques, were found in literature.
  
  
  RESULTS
  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 FBN1 gene and a complex rearrangement with eight breakpoints involving chromosomes 6, 12 and 15.
  
  
  CONCLUSIONS
  This is the first report of MFS with a complex chromosome rearrangement involving a deletion of FBN1 and contiguous genes. In addition to the typical clinical findings of the Marfan syndrome due to FBN1 gene haploinsufficiency, the patient presents features which may be due to the other gene deletions and possibly to the complex chromosome rearrangement.
authors.affiliation: Departamento de Morfologia e Genética, Universidade Federal de São Paulo, São Paulo, SP, Brasil. anabia.morf@epm.br.
authors.forename: Mileny Es
authors.initials: ME
authors.lastname: Colovati
authors.forename: Luciana Rj
authors.initials: LR
authors.lastname: da Silva
authors.forename: Sylvia S
authors.initials: SS
authors.lastname: Takeno
authors.forename: Tatiane I
authors.initials: TI
authors.lastname: Mancini
authors.forename: Ana R
authors.initials: AR
authors.lastname: N Dutra
authors.forename: Roberta S
authors.initials: RS
authors.lastname: Guilherme
authors.forename: Cláudia B
authors.initials: CB
authors.lastname: de Mello
authors.forename: Maria I
authors.initials: MI
authors.lastname: Melaragno
authors.forename: Ana B
authors.initials: AB
authors.lastname: A Perez