[P1] 遺伝・先天異常

[P1-9] Structural analysis for DUP-TRP/INV-DUP in a patient with PLP1 triplication

^○Rina Shimomura¹, Keiko Yamamoto^2,5, Mutsuki Nakano³, Takahiro Tayama³, Tatsuo Mori³, Ken Inoue⁴, Toshiyuki Yamamoto⁵ (1.Department of Pediatrics,Tokyo Women's Medical University,Tokyo,Japan, 2.Transfusion Medicine and Cell Processing,Tokyo Women's Medical University,Tokyo,Japan, 3.Department of Pediatrics,Tokushima University,Tokushima,Japan, 4.Department of Mental Retardation and Birth Defect Research,National Center of Neurology and Psychiatry,Tokyo,Japan, 5.Institute of Medical Genetics,Tokyo Women's Medical University,Tokyo,Japan)