Clinical detection of 22q11 microdeletion in the patients with congenital heart disease by multiplex ligation dependent probe amplification / 中华儿科杂志
Chinese Journal of Pediatrics
;
(12): 316-319, 2011.
Artigo
em Chinês
| WPRIM
| ID: wpr-277056
ABSTRACT
<p><b>OBJECTIVE</b>To detect 22q11 microdeletion in the children and fetuses affected by congenital heart defects.</p><p><b>METHOD</b>MLPA P250 kit was used to detect 22q11 microdeletion in 100 cases of sporadic congenital heart defects including 40 fetuses and 60 patients diagnosed by ultrasound.</p><p><b>RESULT</b>Two cases from the fetuses and 1 case from the patients were found to have 22q11 microdeletion.</p><p><b>CONCLUSION</b>Three cases had 22q11 microdeletion in the congenital heart defects.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Cromossomos Humanos Par 22
/
Deleção Cromossômica
/
Técnicas de Amplificação de Ácido Nucleico
/
Diagnóstico
/
Genética
/
Cardiopatias Congênitas
/
Métodos
Tipo de estudo:
Estudo diagnóstico
Limite:
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Lactente
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Pediatrics
Ano de publicação:
2011
Tipo de documento:
Artigo
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