Application of chromosomal microarray analysis for the diagnosis of children with intellectual disability/developmental delay and a normal karytype / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 169-172, 2017.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-335163
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of children with intellectual disability/developmental delay (ID/DD) but a normal karytype.</p><p><b>METHODS</b>Peripheral blood samples from 92 ID/DD patients were analyzed with CMA using Affymetrix CytoScan 750K arrays. The results were analyzed by ChAS v3.0 software.</p><p><b>RESULTS</b>Eighteen cases (19.57%) were detected with abnormalities by CMA, among which 10 cases were diagnosed with microdeletion/microduplication syndromes. These included 2 Williams-Beuren syndromes, 2 Angelman syndromes, 2 Russell-Silver syndromes, 1 Smith-Magenis syndromes, 1 Wolf-Hirschhorn syndromes, 1 15q26 overgrowth syndrome and 1 Xq28 (MECP2) duplication syndrome. In addition, 8 cases were diagnosed with pathogenic copy number variations (pCNV).</p><p><b>CONCLUSION</b>CMA can significantly improve the diagnostic rate for patients with ID/DD, which is of great value for the treatment of such children and guidance of reproduction for their parents. Therefore, CMA should become the first-line diagnostic test for patients with ID/DD.</p>
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Psicologia
/
Deficiências do Desenvolvimento
/
Análise em Microsséries
/
Variações do Número de Cópias de DNA
/
Cariótipo
/
Genética
/
Inteligência
/
Deficiência Intelectual
Tipo de estudo:
Estudo diagnóstico
/
Guia de prática clínica
Limite:
Adolescente
/
Adulto
/
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2017
Tipo de documento:
Artigo