[P1] 遺伝・先天異常

[P1-22] A case of Xia Gibbs syndrome carrying a de novo microdeletion of 1p36 diagnosed by trio based whole-exome sequencing

^○Kohei Haraguchi¹, Akane Miyazaki¹, Asami Watanabe¹, Tastuharu Sato¹, Hiroyuki Mishima², Koh-ichiro Yoshiura², Sumito Dateki¹, Hiroyuki Moriuchi¹ (1.Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan, 2.Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki, Japan)