Tatiane I Mancini
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Research Subjects
Research Interests
Tatiane I Mancini has a total of 8 co-authors. Here are the top co-authors by number of shared publications:
- Ana Beatriz Alvarez Perez
Universidade Federal de São Paulo, São Paulo, SP, Brazil
1 shared publication - Ana R N Dutra
Departamento de Morfologia e Genética, Universidade Federal de São Paulo, São Paulo, SP, Brasil
1 shared publication - Claudia Berlim de Mello
Department of Psychobiology, Universidade Federal de São Paulo, São Paulo 04724-000, SP, Brazil
1 shared publication - Luciana Rodrigues-Jacy da Silva
Department of Medical Genetics, Instituto de Investigación Sanitaria - Fundación Jiménez Díaz, (IIS-FJD, UAM), Madrid, Spain
1 shared publication - Maria Isabel Melaragno
Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil
1 shared publication - Mileny Esbravatti Stephano Colovati
Postgraduate Program in Health and Environment, Department of Medicine, Universidade Metropolitana de Santos, Santos, SP, Brazil
1 shared publication
Latest Publications
- Open Access
- 19 January 2012
- Published by Springer Nature in Molecular Cytogenetics
- Vol. 5 (1) , 5
Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene
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 wholeFBN1gene, 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 theFBN1gene 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 ofFBN1and contiguous genes. In addition to the typical clinical findings of the Marfan syndrome due toFBN1gene haploinsufficiency, the patient presents features which may be due to the other gene deletions and possibly to the complex chromosome rearrangement.
- 19 January 2012
- Published by Springer Nature in Molecular Cytogenetics
- Vol. 5 (1) , 5
Open AccessMarfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene
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 wholeFBN1gene, 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 theFBN1gene 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 ofFBN1and contiguous genes. In addition to the typical clinical findings of the Marfan syndrome due toFBN1gene haploinsufficiency, the patient presents features which may be due to the other gene deletions and possibly to the complex chromosome rearrangement.