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
en Zh
| WPRIM
| ID: wpr-776780
Biblioteca responsable:
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.
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Índice:
WPRIM
Asunto principal:
Linaje
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Análisis Mutacional de ADN
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Enfermedades Genéticas Ligadas al Cromosoma X
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Molécula L1 de Adhesión de Célula Nerviosa
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Diagnóstico
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Feto
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Genética
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Hidrocefalia
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Mutación
Tipo de estudio:
Diagnostic_studies
Límite:
Female
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Humans
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Male
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Pregnancy
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Article