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

dc.contributorUniversidade Federal de São Paulo (UNIFESP)
dc.creatorColovati, Mileny E. S. [UNIFESP]
dc.creatorSilva, Luciana R. J. da [UNIFESP]
dc.creatorTakeno, Sylvia S. [UNIFESP]
dc.creatorMancini, Tatiane I. [UNIFESP]
dc.creatorDutra, Ana R. N. [UNIFESP]
dc.creatorGuilherme, Roberta S. [UNIFESP]
dc.creatorMello, Claudia B. de [UNIFESP]
dc.creatorMelaragno, Maria I. [UNIFESP]
dc.creatorPerez, Ana B. A. [UNIFESP]
dc.date.accessioned2016-01-24T14:17:48Z
dc.date.accessioned2022-10-07T20:43:06Z
dc.date.available2016-01-24T14:17:48Z
dc.date.available2022-10-07T20:43:06Z
dc.date.created2016-01-24T14:17:48Z
dc.date.issued2012-01-19
dc.identifierMolecular Cytogenetics. London: Biomed Central Ltd, v. 5, 5 p., 2012.
dc.identifier1755-8166
dc.identifierhttp://repositorio.unifesp.br/handle/11600/34533
dc.identifierWOS000309178000002.pdf
dc.identifier10.1186/1755-8166-5-5
dc.identifierWOS:000309178000002
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/4021765
dc.description.abstractBackground: 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.
dc.languageeng
dc.publisherBiomed Central Ltd
dc.relationMolecular Cytogenetics
dc.rightsAcesso aberto
dc.subjectFBN1
dc.subjectMarfan syndrome
dc.subjectComplex Chromosomal Rearrangement
dc.titleMarfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene
dc.typeArtigo


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