title: Cortical dysgenesis in a patient with Turner mosaicism.
abstract: In a patient with Turner mosaicism who had mental retardation, epilepsy and cerebellar ataxia, MRI showed cerebellar atrophy and a bizarre cortical dysgenesis of the cerebrum, which was considered to comprise a mixture of relatively normal gyri and structures resembling pachygyria and lissencephaly. The karyotype of the patient was 45,X/47,XXX, but the brain dysgenesis could not be explained solely on the basis of this mosaicism, which is rarely associated with a gross abnormality in brain pathology. Abnormality of the X chromosome seems to have some potential for inducing cortical dysgenesis, and this case may be partially attributable to an abnormal locus on the X chromosome.
authors.affiliation: Department of Neurology, Institute for Brain Research, University of Tokyo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Terao
authors.forename: K
authors.initials: K
authors.lastname: Hashimoto
authors.forename: N
authors.initials: N
authors.lastname: Nukina
authors.forename: T
authors.initials: T
authors.lastname: Mannen
authors.forename: T
authors.initials: T
authors.lastname: Shinohara
mesh_terms: D000328:Adult; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D009030:Mosaicism / Q000235:genetics*; D014424:Turner Syndrome / Q000235:genetics*