Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 3 de 3
Filtrar
1.
Korean Journal of Obstetrics and Gynecology ; : 2458-2464, 1999.
Artigo em Coreano | WPRIM | ID: wpr-49333

RESUMO

Fragile X syndrome is the most common cause of inherited mental retardation. It accounts for 0.2% - 2.7% of patients with mental retardation, based upon the molecular genetic diagnosis. However, the exact prevalence of fragile X syndrome in Korean patients with mental retardation is unknown. We have performed cytogenetic and molecular analysis for fragile X syndrome in 212 Korean patients with mental retardation. Among them, six patients (2.8%) was identified as carrying fragile X syndrome by both cytogenetic and molecular analysis. The results by cytogenetic analysis was identical to those by molecular analysis. Cytogenetic analysis of 6 carriers (mothers of patients with proven fragile X syndrome) showed a fragile X chromosome in one patients (16.7%) while molecular analysis revealed premutation in all patients. PCR method using Klentaq1 Pfu polymerase showed the same results as those by PCR method using Exo(-) Pfu polymerase, but the former method is recommended because of its simplicity in technical aspect. These data suggest that the prevalence of fragile X syndrome in Korean patients with mental retardation is 2.8%, not significantly different from those in Caucasians.


Assuntos
Humanos , Análise Citogenética , Citogenética , Diagnóstico , Síndrome do Cromossomo X Frágil , Incidência , Deficiência Intelectual , Biologia Molecular , Reação em Cadeia da Polimerase , Prevalência , Cromossomo X
2.
Journal of the Korean Pediatric Society ; : 223-229, 1991.
Artigo em Coreano | WPRIM | ID: wpr-106593

RESUMO

No abstract available.


Assuntos
Criança , Humanos , Hematúria , Prevalência
3.
Journal of the Korean Pediatric Society ; : 1639-1646, 1990.
Artigo em Coreano | WPRIM | ID: wpr-206041

RESUMO

No abstract available.


Assuntos
Imunoglobulinas , Lactoglobulinas , Leite
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA