title: Myoclonic epilepsy and a maternally derived deletion of 15pter-->q13.
abstract: Deletion of a 15pter-->q13 segment of maternal origin was observed in a mentally retarded infant. In addition to the symptoms common to deletions of proximal 15q, the phenotype included myoclonic epilepsy of early infantile onset. The deletion was caused by a 3:1 disjunction in the mother, who was a carrier of t(15;22)(13q;p11) translocation.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, University of Tokyo, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Mizuguchi
authors.forename: K
authors.initials: K
authors.lastname: Tsukamoto
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: Y
authors.initials: Y
authors.lastname: Nakagome
mesh_terms: D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000235:genetics* / Q000503:physiopathology; D005190:Family; D005260:Female; D006801:Humans; D007223:Infant; D010641:Phenotype