Prenatal diagnosis of developmental and epileptic encephalopathy 9 with a 10.05 ‐Mb microdeletion at Xq21.31q22.1 inherited from mother: A case report and literature review

ConclusionIn this case study, we have not only identified the epilepsy type of the woman as DEE9 but have also made an unfavorable prognosis for her fetus. Our findings from this prenatal case provide valuable clinical resources for prenatal diagnosis and genetic counseling, while also implying the potential of CNV-seq as a viable method for uncoveringPCDH19-related epilepsy.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research