The 67th Annual Meeting of the Japanese Society of Child Neurology
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Session Details

General Oral Presentation

[O27]一般演題(口演)27 染色体異常①

Fri. Jun 6, 2025 5:40 PM - 6:40 PM JST
Fri. Jun 6, 2025 8:40 AM - 9:40 AM UTC
第7会場
座長：當山 潤(沖縄南部療育医療センター),前田 知己(大分大学医学部小児科学講座)

[O27-01]Clinical features of neonatal seizures and post-neonatal epilepsy in children with trisomy 18

○Tatsuya Fukasawa1, Toshiki Takeo1, Hiroyuki Kidokoro1,2, Tamiko Negoro1, Tetsuo Kubota1 (1.Department of Pediatrics, Anjo Kosei Hospital, Aichi, Japan, 2.Department of Pediatrics, Nagoya University Graduate School of Medicine, Aichi, Japan)

[O27-02]Digital PCR for the assessment of CNVs revealed by microarray chromosome testing

○Toshiyuki Yamamoto1, Keiko Shimojima2, Takaharu Yamada3, Haruko Sakamoto4, Nobuhiko Okamoto5 (1.Tokyo, Japan, 2.Tokyo, Japan, 3.Nagoya, Japan, 4.Osaka, Japan, 5.Osaka, Japan)

[O27-03]Achievements of microarray chromosomal testing and a trial of expert panel at our hospital

○Masahiro Kawaguchi1, Motomasa Suzuki1, Aki Muto1, Naoki Yamada1, Mako Wada1, Ryosuke Suzui1, Kaori Aiba1, Yusuke Aoki1, Yukako Muramatsu2, Mie Inaba3, Shin Hayashi3, Seiji Mizuno3, Kazuya Itomi1 (1.Department of Pediatric Neurology, Aichi Children's Health and Medical Center, Obu, Aichi, Japan, 2.Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan, 3.Aichi Developmental Disability Center)

[O27-04]A case of TSC2/PKD1 contiguous gene syndrome

○Hiroyuki Yamamoto1, Yosuke Nishio1,2, Yukako Muramatsu1, Noritoshi Kato3, Takayasu Mori4, Ayano Yanagisawa1, Misa Hashimoto1, Misae Yamada1, Hajime Narita1, Takamasa Mitsumatsu1, Annna Shiraki1, Yuji Ito1, Tomohiko Nakata1, Jun Natsume1,5, Hiroyuki Kidokoro1 (1.Department of Pediatrics, Nagoya University Graduate School of Medicine, 2.Medical Genomics Center, Nagoya University Hospital, 3.Department of Nephrology, Nagoya University Hospital, 4.Department of Nephrology, Institute of Science Tokyo, 5.Department of Developmental Disability Medicine, Nagoya University Graduate School of Medicine)

[O27-05]Male Siblings with MECP2 Duplication Syndrome

○Toru Nagata1, Hiroki Tsuchiya1, Sayaka Enomoto1, Rie Tsukahara1, Takashi Shibata1, Mari Akiyama1, Tetsuya Okazaki2, Iori Ohmori1,3, Tomoyuki Akiyama1, Toshiki Takenouchi1 (1.Department of Pediatric Neurology, Okayama University Hospital, Okayama, Japan, 2.Department of Clinical Genetics and Genomic Medicine, Okayama University Hospital, Okayama, Japan, 3.Graduate School of Education, Okayama University, Okayama, Japan)

[O27-06]A case of Sotos syndrome diagnosed based on head circumference enlargement and mixed acute and chronic subdural hematoma

○Mayu Fujiwara1, Yuta Matsunaga1, Akihiro Furusawa1, Takahiro Motonaga1, Fumitaka Kouno1, Takashi Furuta1, Madoka Hoshide2, takeshi Matsushige1, Kenjiro Saigo3, Shunji Hasegawa1 (1.Department of Pediatrics, Graduate School of Medicine, Yamaguchi University, Japan., 2.Department of pediatric emergency and community medicine, Yamaguchi University, Japan., 3.Department of Pediatrics, Yamaguchi Red Cross Hospital, Yamaguchi, Japan.)
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