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

General Poster Presentation

[P1]一般演題(ポスター)1 染色体異常（CGHアレイ異常含む）

Thu. Jun 5, 2025 1:40 PM - 2:30 PM JST
Thu. Jun 5, 2025 4:40 AM - 5:30 AM UTC
ポスター会場

[P1-01]A case of 6q27 deletion with fetal cerebral ventriculomegaly, white matter heterotopias, epilepsy, and macrocephaly

○Takuya Hiraide1, Kaishu Oda1, Taiju Hayashi1, Rei Urushibata1, Hidetoshi Ishigaki1, Kazuhiko Kurozumi2, Tokiko Fukuda1,3 (1.Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan, 2.Department of Neurosurgery, Hamamatsu University School of Medicine, Hamamatsu, Japan, 3.Department of Hamamatsu Child Health and Development, Hamamatsu University School of Medicine, Hamamatsu, Japan)

[P1-02]Case of a 2-year-old girl with clinical features of Nager syndrome caused by 1q21.2 microdeletion

○Sayako Yamaoka1, Takeshi Ota4, Kazumasa Kitamura1, Sanae Fujiwara1, Taisei Kayaki3, Takeshi Yoshida3, Keiichi Shigehara1, Takenori Tozawa2 (1.Department of Pediatrics, Ayabe City Hospital, Kyoto, Japan, 2.Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine,Kyoto, Japan, 3.Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan, 4.Minaguchi Children's Clinic)

[P1-03]Mosaic and partial monosomy of chromosome 21 in a case with status epilepticus and periventricular calcification.

○Yu Katata, Saki Uneoka, Miki Ikeda, Aritomo Kawashima, Wakaba Endo, Takehiko Inui, Noriko Togashi, Kazuhiro Haginoya (Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, Japan)

[P1-04]System for patients with submicroscopic chromosome abnormality syndrome revealed by chromosomal microarray testing

○Toshiyuki Yamamoto1,2, Kenji Shimizu1, Ayumi Mastumoto1, Chisen Takeuchi1, Eriko Nishi1, Naoya Morisada1, Aki Ishikawa1, Yukako Muramatsu1, Takeshi Yoshida1, Daijyu Ooba1, Yosuke Kita1 (1.Policy Research Project on Intractable Diseases under the Ministry of Health, Labour and Welfare (MHLW) in Japan, 2.Tokyo Women's Medical University, Tokyo, Japan)
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