Use of multiplex ligation-dependent probe amplification (MLPA) in screening of subtelomeric regions in children with idiopathic mental retardation.
Indian J Pediatr
;
2009 Oct; 76(10): 1027-1031
Artigo
em Inglês
| IMSEAR
| ID: sea-142398
ABSTRACT
Objective. To detect subtelomeric copy number variations (deletions and duplications) using Multiplex Ligation-Dependent Probe Amplification (MLPA) technique in children with idiopathic mental retardation. Methods. All children presenting to the genetics out-patient department for evaluation of mental retardation or developmental delay over a period of two years, for whom no identifiable cause could be found by clinical evaluation, karyotyping, neuroimaging and other relevant investigations. Results. In the present study, two cases deletions and one case of duplication were detected amongst 65 cases with idiopathic mental retardation/ global developmental delay. The overall detection rate is 4.6%. The detection rate is higher (13%) in children with facial dysmorphism. Conclusion. MLPA for subtelomeric regions is recommended for evaluation of children with idiopathic mental retardation/ global developmental delay were included in the study.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Feminino
/
Humanos
/
Masculino
/
Intervalos de Confiança
/
Razão de Chances
/
Criança
/
Deficiências do Desenvolvimento
/
Pré-Escolar
/
Testes Genéticos
/
Incidência
Tipo de estudo:
Estudo diagnóstico
/
Estudo de etiologia
/
Estudo de incidência
/
Estudo observacional
/
Estudo prognóstico
/
Fatores de risco
/
Estudo de rastreamento
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Indian J Pediatr
Ano de publicação:
2009
Tipo de documento:
Artigo
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