Myoclonic epilepsy and a maternally derived deletion of 15pter-->q13.
- Published Article
- Publication Date
Jan 01, 1994
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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The corresponding record at NLM can be accessed at https://www.ncbi.nlm.nih.gov/pubmed/8149652