Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum.
A Japanese male with mosaicism of ring chromosome 14 and chromosome 14 monosomy is described. He demonstrated the characteristic morphologic features of ring chromosome 14, in addition to mental retardation and epileptic seizures. Clusters of complex partial seizures, one of which originated in the left frontocentral region on electroencephalographic monitoring, were evident. His seizures responded to phenobarbital, and his mental and motor development was only mildly retarded. Magnetic resonance imaging revealed a hypoplastic corpus callosum, previously unknown in association with this syndrome.
Ono
J
J
Department of Pediatrics, Faculty of Medicine, Osaka University, Suita, Japan.
Nishiike
K
K
Imai
K
K
Otani
K
K
Okada
S
S
D061085:Agenesis of Corpus Callosum; D001284:Atrophy; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics / Q000503:physiopathology*; D025063:Chromosome Disorders; D002883:Chromosomes, Human, Pair 14; D003337:Corpus Callosum / Q000473:pathology; D017029:Epilepsy, Complex Partial / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D007564:Japan; D007621:Karyotyping; D008297:Male; D009030:Mosaicism / Q000235:genetics / Q000503:physiopathology*; D012303:Ring Chromosomes