Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation

Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation

Autor Carvalho, Acacia Fernandes Lacerda de Autor UNIFESP Google Scholar
Silva Bellucco, Fernanda Teixeira da Autor UNIFESP Google Scholar
Kulikowski, Leslie Domenici Autor UNIFESP Google Scholar
Pereira Toralles, Maria Betania Google Scholar
Melaragno, Maria Isabel Autor UNIFESP Google Scholar
Instituição Universidade Federal de São Paulo (UNIFESP)
Ctr Genet & Mol Biol
Universidade Federal da Bahia (UFBA)
Resumo A family with six alive patients with partial monosomy 5p and five with partial trisomy 5p due to a t(5;15)(p13.3;p12) translocation is reported. the translocation was present in four generations with eight balanced carriers. This is the first molecular-cytogenetic and clinical study with both syndromes present in the same family. Using fluorescence in situ hybridization (FISH) with bacterial artificial chromosome (BAC) probes, the breakpoint was mapped to 5p13.3, in the interval corresponding to the BAC clone RP11-1079N14, thereof resulting a 5pter-5p13.3 deletion or duplication of similar to 32 Mb. These chromosome imbalances can be considered pure, since the other imbalance produced involving chromosome 15p has no phenotypic effect. the presence of several individuals with 5p monosomy and 5p trisomy in the same family is valuable for a better delineation of both syndromes.
Idioma Inglês
Financiador Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Data de publicação 2008-11-01
Publicado em Human Genetics. New York: Springer, v. 124, n. 4, p. 387-392, 2008.
ISSN 0340-6717 (Sherpa/Romeo, fator de impacto)
Publicador Springer
Extensão 387-392
Fonte http://dx.doi.org/10.1007/s00439-008-0557-x
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000260767100006
Endereço permanente http://repositorio.unifesp.br/handle/11600/30991

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