Session Details

[P18]一般演題(ポスター)18 染色体異常(CGHアレイ異常含む)

Fri. Jun 6, 2025 4:40 PM - 5:30 PM JST
Fri. Jun 6, 2025 7:40 AM - 8:30 AM UTC
ポスター会場

[P18-01]A case of macrocephaly with 2q12.3-q13 deletion caused by chromothripsis

Masanori Fujimoto, Naomichi Mano, Yuka Murofushi, Toshihiko Iwaki, Emi Sato, Daisuke Ieda, Yutaka Negishi, Ayako Hattori, Shinji Saitoh (Nagoya City University, Graduate school of Medical Sciences, Department of Pediatrics, Aichi, Japan)

[P18-02]Case of extra marker chromosome 15 missed at unlicensed NIPT facility

Tomoe Yanagishita1, Yuki Kihara1, Takuma Hashizume1, Takayuki Kishi1, Satoru Nagata1, Toshiyuki Yamamoto2 (1.Department of Pediatrics, Tokyo womens medical University, Tokyo, Japan, 2.Department of Genomic Medicine, Tokyo womens medical University, Tokyo, Japan)

[P18-03]Array comparative genomic hybridization in patients with global developmental delay or neurodevelopmental disorders.

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