Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 1 de 1
Filtrar
Mais filtros

Base de dados
Ano de publicação
Tipo de documento
Intervalo de ano de publicação
1.
J Child Neurol ; 31(6): 691-9, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26511719

RESUMO

Microarray-based comparative genomic hybridization is a method of molecular analysis that identifies chromosomal anomalies (or copy number variants) that correlate with clinical phenotypes. The aim of the present study was to apply a clinical score previously designated by de Vries to 329 patients with intellectual disability/developmental disorder (intellectual disability/developmental delay) referred to our tertiary center and to see whether the clinical factors are associated with a positive outcome of aCGH analyses. Another goal was to test the association between a positive microarray-based comparative genomic hybridization result and the severity of intellectual disability/developmental delay. Microarray-based comparative genomic hybridization identified structural chromosomal alterations responsible for the intellectual disability/developmental delay phenotype in 16% of our sample. Our study showed that causative copy number variants are frequently found even in cases of mild intellectual disability (30.77%). We want to emphasize the need to conduct microarray-based comparative genomic hybridization on all individuals with intellectual disability/developmental delay, regardless of the severity, because the degree of intellectual disability/developmental delay does not predict the diagnostic yield of microarray-based comparative genomic hybridization.


Assuntos
Hibridização Genômica Comparativa/métodos , Variações do Número de Cópias de DNA/genética , Deficiências do Desenvolvimento/genética , Deficiência Intelectual/genética , Encéfalo/diagnóstico por imagem , Criança , Pré-Escolar , Aberrações Cromossômicas , Deficiências do Desenvolvimento/diagnóstico por imagem , Eletroencefalografia , Feminino , Humanos , Lactente , Recém-Nascido , Deficiência Intelectual/diagnóstico por imagem , Modelos Logísticos , Masculino , Análise em Microsséries , Estudos Retrospectivos , Índice de Gravidade de Doença
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA