Article
Myoclonic epilepsy and a maternally derived deletion of 15pter-->q13.
Clinical genetics - 1 Jan 1994
Mizuguchi M, Tsukamoto K, Suzuki Y, Nakagome Y
Abstract excerpt
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 wa...
Topics
- Chromosome Deletion
- Chromosomes, Human, Pair 15
- Electroencephalography
- Epilepsies, Myoclonic
- Family
- Female
- Humans
- Infant
- Phenotype