Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum

Citation
J. Ono et al., Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum, PED NEUROL, 20(1), 1999, pp. 70-72
Citations number
15
Categorie Soggetti
Pediatrics,"Medical Research General Topics
Journal title
PEDIATRIC NEUROLOGY
ISSN journal
08878994 → ACNP
Volume
20
Issue
1
Year of publication
1999
Pages
70 - 72
Database
ISI
SICI code
0887-8994(199901)20:1<70:RC1CWC>2.0.ZU;2-L
Abstract
A Japanese male with mosaicism of ring chromosome 14 and chromosome 14 mono somy is described, He demonstrated the characteristic morphologic features of ring chromosome 14, in addition to mental retardation and epileptic seiz ures. Clusters of complex partial seizures, one of which originated in the left frontocentral region on electroencephalographic monitoring, were evide nt. His seizures responded to phenobarbital, and his mental and motor devel opment was only mildly retarded. Magnetic resonance imaging revealed a hypo plastic corpus callosum, previously unknown in association with this syndro me. (C) 1999 by Elsevier Science Inc. All rights reserved.