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P6-21 A case of epilepsy with nonprogressive myoclonic status

✍ Scribed by S. Watanabe; Y. Murata; K. Kataoka; S. Takagi; M. Watanabe; E. Matsushima


Book ID
117773242
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
60 KB
Volume
121
Category
Article
ISSN
1388-2457

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A de novo interstitial tandem duplication of 6p12p21.3 was observed in a 7-month-old boy with growth retardation, psychomotor delay and craniofacial, brain, limb, and genital anomalies. Fluorescent in situ hybridization using a chromosome 6 paint probe demonstrated that the extra material belonged t