[P32] Chromosomal abnormality

Fri. Jun 1, 2018 5:10 PM - 5:40 PM Poster (Convention Hall A)

Chair:Kenji Kurosawa(Division of Medical Genetics, Kanagawa Children's Medical Center)

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[P-183] A case of interstitial deletion of chromosome 3p

Akiko Wakisaka¹, YO NIIDA², SHINYA YAMADA¹, SHINPEI YAMADA¹, AKIKO TOGA¹, AYANO YOKOI¹, NAMI NAKAMURA¹, KEIKO MARUHASHI¹, ICHIROU OHNO¹ (1.Department of Pediatrics,National Hospital Organization Iou Hospital,Kanazawa,Japan, 2.Center for Medical Genetics,KanazawaMedical University Hospital,Ishikawa,Japan)

[P-184] 6q12q13 microdeletion syndrome in a Japanese boy diagnosed with autism spectrum disorder

Takako Matsumoto, Toshiro Maihara (Hyogo prefectural Amagasaki General hospital, Hyogo, Japan)

[P-185] Two cases of mosaic trisomy 8 with body weight gain loss

Keisuke Nakajima¹, KOUJI TAKAHASHI¹, MAHO UMEHARA¹, TETSUYA OOTA¹, TETSUHIRO HUKUYAMA² (1.JA Toride General Medical Center, Ibaraki, Japan, 2.Nagano Children's Hospital, Nagano, Japan)

[P-186] Cervical spinal cord injury due to cervical spinal dysplasia with 22q11.2 deletion syndrome

Hiromi Suzuki¹, ASAMI ITO⁴, HIROSHI YOSHIHASHI², SATOSHI IHARA³, SAHOKO MIYAMA¹ (1.Department of Neurology,Tokyo Metropolitan Children's Medical Center,Tokyo,Japan, 2.Department of Medical Genetics,Tokyo Metropolitan Children's Medical Center,Tokyo,Japan, 3.Department of Neurosurgery,Tokyo Metropolitan Children's Medical Center,Tokyo,Japan, 4.Department of Pediatrics,Hiratsuka City Hospital,Kanagawa,Japan)

[P-187] Two cases of 22q11.2 deletion syndrome presenting with convulsions and loss of consciousness

Nanako Nishiguchi, Tatsuharu Sato, Kaoru Moriyama, Kouhei Haraguchi, Kazuhiko Hashimoto, Daishi Inoue, Hiroyuki Moriuchi (The Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan)

[P-188] A genotype—phenotype correlation study for 4 patients with 3p13 deletion involving FOXP1

Keiko Yamamoto—shimojima^1,2, WATARU MATSUMURA³, TETSUYA OKAZAKI³, YOSHIHIRO MAEGAKI³, NOBUHIKO OKAMOTO⁴, TOSHIYUKI YAMAMOTO² (1.Restart Postdoctoral Fellowship, Japan Society for the Promotion of Science, Tokyo, Japan, 2.Institute of Medical Genetics, Tokyo Womens Medical University, Tokyo, Japan, 3.Department of Child Neurology, Tottori University, Yonago, Japan, 4.Department of Medical Genetics, Osaka Womens and Childrens Hospital, Osaka, Japan)