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.
Article
в Zh
| WPRIM
| ID: wpr-797490
Ответственная библиотека:
WPRO
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.
Полный текст:
1
База данных:
WPRIM
Тип исследования:
Diagnostic_studies
Язык:
Zh
Журнал:
Chinese Journal of Medical Genetics
Год:
2019
Тип:
Article