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
de Zh
| WPRIM
| ID: wpr-776780
Bibliothèque 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.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Pedigree
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Analyse de mutations d'ADN
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Maladies génétiques liées au chromosome X
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Molécule d'adhérence cellulaire neurale L-1
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Diagnostic
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Foetus
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Génétique
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Hydrocéphalie
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Mutation
Type d'étude:
Diagnostic_studies
Limites du sujet:
Female
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Humans
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Male
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Pregnancy
langue:
Zh
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2019
Type:
Article