Myoclonic epilepsy and a maternally derived deletion of 15pter-->q13.
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.
Mizuguchi
M
M
Department of Pediatrics, Faculty of Medicine, University of Tokyo, Japan.
Tsukamoto
K
K
Suzuki
Y
Y
Nakagome
Y
Y
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