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Genetic analysis and prenatal diagnosis of a fetus with Xq25 microduplication / 中华医学遗传学杂志
Article in Zh | WPRIM | ID: wpr-928434
Responsible library: WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a fetus with structural brain abnormalities.@*METHODS@#The karyotypes of the fetus and its parents were analyzed by conventional G-banding. Chromosome microarray analysis (CMA) was carried out to detect chromosomal microdeletion and microduplication.@*RESULTS@#No kartotypic abnormality was detected in the fetus and its parents. CMA has identified a 194 kb microduplication at Xq25 in the fetus, which encompassed exons 4-35 of the STAG2 gene and was derived from its mother.@*CONCLUSION@#The Xq25 duplication encompassing part of the STAG2 gene probably underlay the brain malformation in the fetus.
Subject(s)
Full text: 1 Index: WPRIM Main subject: Prenatal Diagnosis / Genetic Testing / Chromosome Banding / Fetus / Karyotyping Type of study: Diagnostic_studies Limits: Female / Humans / Pregnancy Language: Zh Journal: Chinese Journal of Medical Genetics Year: 2022 Type: Article
Full text: 1 Index: WPRIM Main subject: Prenatal Diagnosis / Genetic Testing / Chromosome Banding / Fetus / Karyotyping Type of study: Diagnostic_studies Limits: Female / Humans / Pregnancy Language: Zh Journal: Chinese Journal of Medical Genetics Year: 2022 Type: Article