Myoclonic epilepsy and a maternally derived deletion of 15pter→13 |
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| Authors: | Masashi Mizuguchi Keiko Tsukamoto Yoshiyuki Suzuki Yasuo Nakagome |
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| Institution: | Department of Pediatrics, Faculty of Medicine, The University of Tokyo;Department of Human Genetics, Faculty of Medicine, The University of Tokyo;Department of Pediatrics, Inada-Noborito Hospital;The Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan |
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| 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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| Keywords: | Angelman syndrome chromosome 15 deletion myoclonic epilepsy translocation |
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