Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene

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dc.contributor.author Colovati, Mileny E. S. [UNIFESP]
dc.contributor.author Silva, Luciana R. J. da [UNIFESP]
dc.contributor.author Takeno, Sylvia S. [UNIFESP]
dc.contributor.author Mancini, Tatiane I. [UNIFESP]
dc.contributor.author Dutra, Ana R. N. [UNIFESP]
dc.contributor.author Guilherme, Roberta S. [UNIFESP]
dc.contributor.author Mello, Claudia B. de [UNIFESP]
dc.contributor.author Melaragno, Maria I. [UNIFESP]
dc.contributor.author Perez, Ana B. A. [UNIFESP]
dc.date.accessioned 2016-01-24T14:17:48Z
dc.date.available 2016-01-24T14:17:48Z
dc.date.issued 2012-01-19
dc.identifier http://dx.doi.org/10.1186/1755-8166-5-5
dc.identifier.citation Molecular Cytogenetics. London: Biomed Central Ltd, v. 5, 5 p., 2012.
dc.identifier.issn 1755-8166
dc.identifier.uri http://repositorio.unifesp.br/handle/11600/34533
dc.description.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.Discussion: 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. en
dc.description.sponsorship Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.format.extent 5
dc.language.iso eng
dc.publisher Biomed Central Ltd
dc.relation.ispartof Molecular Cytogenetics
dc.rights Acesso aberto
dc.subject FBN1 en
dc.subject Marfan syndrome en
dc.subject Complex Chromosomal Rearrangement en
dc.title Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene en
dc.type Artigo
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.description.affiliation Universidade Federal de São Paulo, Dept Morfol & Genet, São Paulo, Brazil
dc.description.affiliation Universidade Federal de São Paulo, Ctr Paulista Neuropsicol, Dept Psicobiol, São Paulo, Brazil
dc.description.affiliationUnifesp Universidade Federal de São Paulo, Dept Morfol & Genet, São Paulo, Brazil
dc.description.affiliationUnifesp Universidade Federal de São Paulo, Ctr Paulista Neuropsicol, Dept Psicobiol, São Paulo, Brazil
dc.description.sponsorshipID FAPESP: 09/54261-4
dc.identifier.file WOS000309178000002.pdf
dc.identifier.doi 10.1186/1755-8166-5-5
dc.description.source Web of Science
dc.identifier.wos WOS:000309178000002



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