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-797490
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)
Tipo de estudo:
Estudo diagnóstico
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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