Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome

Registro completo de metadados
MetadadosDescriçãoIdioma
Autor(es): dc.contributorUniversidade Estadual Paulista (Unesp)-
Autor(es): dc.creatorSouza, Deise Helena de-
Autor(es): dc.creatorMoretti-Ferreira, Danilo-
Autor(es): dc.creatorSouza Rugo, Ligia Maria Suppo de-
Data de aceite: dc.date.accessioned2022-02-22T00:07:07Z-
Data de disponibilização: dc.date.available2022-02-22T00:07:07Z-
Data de envio: dc.date.issued2020-12-09-
Data de envio: dc.date.issued2020-12-09-
Data de envio: dc.date.issued2007-03-01-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/195865-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/195865-
Descrição: dc.descriptionFluorescent in situ hybridization (FISH) with commercial probes covering the elastin gene (ELN) was used to determine the frequency of the 7q11.23 deletion in 18 children clinically diagnosed with Williams-Beuren syndrome (WBS). A de novo deletion was detected in 15 of the children (83%). Diagnostic investigation for WBS started late in childhood (median = 5.8 years). All the children showed facial features typical of the syndrome, mental retardation and developmental delay. Over-friendliness was observed in the majority of cases. Clinodactyly of the 5th finger (n = 13), cardiovascular disease (n = 9), loquacity (n = 9), low birthweight (n = 8), and failure to thrive (n = 9) were observed only in those children with the deletion. Respiratory problems (n = 9), though not previously reported in the literature, was a common finding in the group studied. Our results confirmed that FISH is useful in identifying 7q11.23 deletions in cases of WBS. Clinical manifestations were more evident in the deletion-positive children.-
Descrição: dc.descriptionUNESP, Inst Biociencias, Dept Genet, Serv Aconselhamento Genet, BR-18618000 Botucatu, SP, Brazil-
Descrição: dc.descriptionUniv Estadual Paulista, Fac Med, Dept Pediat, Botucatu, SP, Brazil-
Descrição: dc.descriptionUNESP, Inst Biociencias, Dept Genet, Serv Aconselhamento Genet, BR-18618000 Botucatu, SP, Brazil-
Descrição: dc.descriptionUniv Estadual Paulista, Fac Med, Dept Pediat, Botucatu, SP, Brazil-
Formato: dc.format17-20-
Idioma: dc.languageen-
Publicador: dc.publisherSoc Brasil Genetica-
Relação: dc.relationGenetics And Molecular Biology-
???dc.source???: dc.sourceWeb of Science-
Palavras-chave: dc.subject7q11.23 deletion-
Palavras-chave: dc.subjectELN-
Palavras-chave: dc.subjectFISH-
Palavras-chave: dc.subjectWilliams-Beuren syndrome-
Título: dc.titleFluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

Não existem arquivos associados a este item.