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	Provedor de dados Genet. Mol. Biol. (2) Autor Moretti-Ferreira,Danilo (2) Souza,Deise Helena de (2) Joaquim,Tatiana Mozer (1) Martelli,Lúcia Regina (1) Oliveira,Jakeline Santos (1) Rugolo,Lígia Maria Suppo de Souza (1) Silva,Rosana Aparecida Bicudo da (1) Mais... Palavra-chave 7q11.23 deletion (1) Array-CGH (1) Duplication 12p (1) ELN (1) FISH (1) Facial dysmorphism (1) Williams-Beuren syndrome (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2020 (1) 2007 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Fluorescent in situ hybridization (FISH) as a diagnostic tool for Williams-Beuren syndrome Genet. Mol. Biol. Souza,Deise Helena de; Moretti-Ferreira,Danilo; Rugolo,Lígia Maria Suppo de Souza. Fluorescent 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 =... Tipo: Info:eu-repo/semantics/article Palavras-chave: 7q11.23 deletion; ELN; FISH; Williams-Beuren syndrome. Ano: 2007 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572007000100005 Non-mosaic partial duplication 12p in a patient with dysmorphic characteristics and developmental delay Genet. Mol. Biol. Oliveira,Jakeline Santos; Joaquim,Tatiana Mozer; Silva,Rosana Aparecida Bicudo da; Souza,Deise Helena de; Martelli,Lúcia Regina; Moretti-Ferreira,Danilo. Abstract Duplication of the short arm of chromosome 12 is a rare chromosomal abnormality that may arise de novo or result from malsegregation of a balanced parental translocation. This study comprises the clinical description, cytogenetic and cytogenomic analyses and genotype-phenotype correlation in a patient with facial dysmorphism, developmental delay and intellectual impairment caused by non-mosaic partial duplication and a paracentric inversion 12p. The patient’s GTG-banded karyotype was 46,XX,invdup(12)(pter → p13.32::p11.1 → p13.31::p13.31 → qter). A genetic gain of approximately 28 Mb was detected in the chromosomal region arr[GRCh37]12p13.31-p11.1(6914072_34756209)x3. The chromosomal alteration seen in our patient is described as “pure” partial... Tipo: Info:eu-repo/semantics/article Palavras-chave: Duplication 12p; Array-CGH; Facial dysmorphism. Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100103 Registros recuperados: 2 Primeira ... 1 ... Última

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