Diagnosis of a fetus with X-linked hydrocephalus due to mutation of L1CAM gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 897-900, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-776780
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a case of recurrent fetal congenital hydrocephalus.@*METHODS@#Next-generation sequencing was carried out for the fetus, the gravida and two of her sisters.@*RESULTS@#The fetus was found to harbor a c.1765T>C (p.Tyr589His) mutation in exon 14 of the L1CAM gene, which was derived from the gravida.@*CONCLUSION@#Male fetuses with recurrent hydrocephalus should be subjected to testing of the L1CAM gene to facilitate genetic counseling and prenatal diagnosis.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Análise Mutacional de DNA
/
Doenças Genéticas Ligadas ao Cromossomo X
/
Molécula L1 de Adesão de Célula Nervosa
/
Diagnóstico
/
Feto
/
Genética
/
Hidrocefalia
/
Mutação
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Masculino
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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