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

General Oral Presentation

[O30]一般演題(口演)30 染色体異常②

Sat. Jun 7, 2025 8:25 AM - 9:15 AM JST
Sat. Jun 7, 2025 11:25 PM - 12:15 AM UTC
第1会場
座長：新井田 要(金沢医科大学総合医学研究所先端医療研究領域遺伝子疾患研究分野),三橋 隆行(医療法人財団順和会山王病院小児科,国際医療福祉大学臨床医学研究センター)

[O30-01]A case of 46,X,der(Y)t(X;Y)(p22.1;q11.221) in a male

○Yoshiki Oitani1, Toshiyuki Yamamoto2, Tomofusa Nagata1, Haruka Tada1, Keiko Suzuki1, Kaoru Eto1, Hisafumi Matsuoka1 (1.Department of Pediatrics, Tokyo Women's Medical University Adachi Medical Center, Tokyo, Japan, 2.Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.)

[O30-02]A case of Potocki-Lupski syndrome with congenital Horner syndrome.

○Ayaka Hamahara1,2, Mitsuru Ikeno1, Eisyun Takehara1, Takato Akiba2, Shinpei Matsuda1, Shino Shimada1, Shinpei Abe1 (1.Department of Pediatrics, Juntendo University Faculty of Medicine, Tokyo, Japan, 2.Department of Pediatrics, Juntendo University Urayasu Hospital, Tokyo, Japan)

[O30-03]A Case of Angelman syndrome with 15q11q13 deletion, challenging to clinically differentiate from Prader-Willi syndrome

○Ryoji Taira1, Kentaro Marutani1, Yuji Ueno1, Saori Kawakami1, Kousuke Yonemoto1, Michiko Torio1, Takeshi Kusuda2, Ryutaro Kira1 (1.Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan, 2.Department of Neonatology, Fukuoka Children's Hospital, Fukuoka, Japan)

[O30-04]Sibling cases of Phelan-McDermid syndrome

○Hiroaki Ono (Department of Pediatrics, Hiroshima City North Medical Center Asa Citizens Hospital,Hiroshima, Japan)

[O30-05]Hashimoto's encephalopathy occurred in a three-year-old boy with trisomy 13

○Akiko Yakuwa1,2, Keisuke Hirota1, Maya Asami1, Sachiko Tanifuji1, Kanako Mizuma1, Manami Akasaka1, Yota Sato2, Hiroyuki Toda2 (1.Department of Pediatrics, Iwate Medical University, Iwate, Japan, 2.Department of Pediatrics, Iwate Prefectural Rehabilitation and Nursery Center, Iwate, Japan)
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