title: Ring chromosome 20 mosaicism in a girl with complex partial seizures.
abstract: The authors report an 11-year-old girl with epilepsy, poor school-performance and minor behavioural disorders. The epilepsy is characterized by complex partial seizures, sometimes progressing secondarily into generalized tonic-clonic seizures, and is poorly controlled by medical treatment. Chromosomal analysis revealed a ring chromosome 20 mosaicism. The affected patient shows signs of ring chromosome 20 syndrome, characterized in the present case by poor school-performance, behavioural disorders and epilepsy.
authors.affiliation: Department of Paediatric Neurology, University Hospital of Turku, Finland.
authors.forename: I
authors.initials: I
authors.lastname: Holopainen
authors.forename: M
authors.initials: M
authors.lastname: Penttinen
authors.forename: T
authors.initials: T
authors.lastname: Lakkala
authors.forename: T
authors.initials: T
authors.lastname: Aärimaa
mesh_terms: D002648:Child; D002890:Chromosomes, Human, Pair 20; D004832:Epilepsy, Absence / Q000235:genetics*; D005260:Female; D006801:Humans; D001523:Mental Disorders / Q000209:etiology; D009030:Mosaicism / Q000235:genetics*; D012303:Ring Chromosomes