Session Details
[O4]Oral Session 4 Epigenetics, Cytogenetics
Thu. Oct 10, 2024 9:30 AM - 10:20 AM JST
Thu. Oct 10, 2024 12:30 AM - 1:20 AM UTC
Thu. Oct 10, 2024 12:30 AM - 1:20 AM UTC
Room 4（Regent Hall, 2F）
Chairs：Hidenobu Soejima（Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University）, Shinji Saitoh（Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences）
[O4-1]Long-read sequencing analysis in two Beckwith-Wiedemann syndrome families caused by defects of OCT4/SOX2 binding site
○Masayo Kagami1, Hayate Masubuchi1, Tatsuki Urakawa1, Rika Kosaki2, Hideaki Yagasaki3, Hidenobu Soejima4, Tsutomu Ogata5, Maki Fukami1 (1.Department of Molecular Endocrinology, National Center for Child Health and Development, Tokyo, Japan, 2.Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan, 3.Department of Pediatrics, Yamanashi University, Yamanashi, Japan, 4.Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, Japan, 5.Department of Pediatrics, Hamamatsu Medical Center, Hamamatsu, Japan)
[O4-2]Comprehensive diagnosis of a case of Silver-Russell syndrome and Beckwith-Wiedemann syndrome using nanopore sequencing
○Kazuki Yamazawa1, Moeko Nakashima1, Eri Shijiki2, Megumi Saito-Tsuruoka2, Chikahiko Numakura2,3 (1.Department of Medical Genetics, NHO Tokyo Medical Center, Tokyo, Japan, 2.Department of Clinical Genomics, Saitama Medical University Hospital, Saitama, Japan, 3.Department of Pediatrics, Saitama Medical University Hospital, Saitama, Japan)
[O4-3]Identification of genomic polymorphisms associated with intellectual disability in ATR-X syndrome
○Karin Hori1, Masanari Otsuka1, Namiki Doi1,2, Norifumi Shioda1,2 (1.Department of Genomic Neurology, Institute of Molecular Embryology and Genetics, Kumamoto University, Kumamoto, Japan, 2.Graduate school of Pharmaceutical Sciences, Kumamoto University, Kumamoto, Japan)
[O4-4]High proportion of monosomy 21 cells revealed by chromosomal microarray in a patient with ring chromosome 21 mosaicism
○Kenta Hasumi1,2, Miyu Fukushima1,2, Mariko Sagara1,2, Sayuri Oda1,2, Hiroyuki Kuramitsu1,2, Masahiro Koyama2, Yusuke Oguchi3, Miwako Kizumi3, Daiju Oba3, Hirofumi Ohashi3 (1.Genetic Laboratory, Saitama Children's Medical Center, Saitama, Japan, 2.Department of Clinical Laboratory, Saitama Children's Medical Center, Saitama, Japan, 3.Department of Medical Genetics, Saitama Childlen's Medical Center, Saitama, Japan)
[O4-5]Unbalanced translocation involving an acrocentric chromosome not predicted by chromosomal microarray analysis
○Kosuke Yamada, Naoki Takabayashi, Fumi Kurebayashi, Kenji Shimizu (Division of Clinical Genetics and Cytogenetics, Shizuoka Children's Hospital, Shizuoka, Japan)