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Genetic analysis and prenatal diagnosis of a fetus with harlequin ichthyosis / 中华医学遗传学杂志
Article de Zh | WPRIM | ID: wpr-781318
Bibliothèque responsable: WPRO
ABSTRACT
OBJECTIVE@#To carry out variant analysis for a fetus suspected with harlequin ichthyosis (HI).@*METHODS@#Whole exome sequencing (WES) was employed to detect potential variant in the fetus. Suspected variant was validated by Sanger sequencing.@*RESULTS@#A homozygous missense variant c.6858delT (p.F2286fs) was detected in the fetus, for which both parents were heterozygous carriers. Pathological analysis confirmed the diagnosis of HI.@*CONCLUSION@#The c.6858delT variant of the ABCA12 gene probably underlies the disease in the fetus.
Sujet(s)
Texte intégral: 1 Indice: WPRIM Sujet Principal: Diagnostic prénatal / Dépistage génétique / Ichtyose lamellaire / Transporteurs ABC / Foetus / Génétique / Hétérozygote Type d'étude: Diagnostic_studies Limites du sujet: Female / Humans / Pregnancy langue: Zh Texte intégral: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Année: 2019 Type: Article
Texte intégral: 1 Indice: WPRIM Sujet Principal: Diagnostic prénatal / Dépistage génétique / Ichtyose lamellaire / Transporteurs ABC / Foetus / Génétique / Hétérozygote Type d'étude: Diagnostic_studies Limites du sujet: Female / Humans / Pregnancy langue: Zh Texte intégral: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Année: 2019 Type: Article