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

Authors
  • Mizuguchi, M
  • Tsukamoto, K
  • Suzuki, Y
  • Nakagome, Y
Type
Published Article
Journal
Clinical genetics
Publication Date
Jan 01, 1994
Volume
45
Issue
1
Pages
44–47
Identifiers
PMID: 8149652
Source
Medline
License
Unknown

Abstract

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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