Myoclonic epilepsy and a maternally derived deletion of 15pter-->q13.

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 was a carrier of t(15;22)(13q;p11) translocation.

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• Share to Chromosome Deletion
• Share to Chromosomes, Human, Pair 15
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