Session Details

[P2-06]Poster Session 2-06 Clinical Genetics 2

Fri. Dec 19, 2025 5:50 PM - 6:50 PM JST
Fri. Dec 19, 2025 8:50 AM - 9:50 AM UTC
Poster Room 1 (301+302, 3F, PACIFICO Yokohama)

[P2-06-1]A Case of Trisomy 9 Mosaicism Diagnosed Following Detection of Placental Trisomy 9

Sara Kusumoto1, Yuri Hasegawa1, Riko Matsuda2, Masaki Nishi1, Sayaka Kawashita1, Itsuki Kazimura1, Ai Nagata1, Yuriko Kitajima1, Shoko Miura1, Kiyonori Miura1 (1.Department of Obstetrics and Gynecology, Nagasaki University, 2.Department of Clinical Genomics Center, Nagasaki University Hospital, Nagasaki, Japan)

[P2-06-2]Noonan Syndrome-Like Phenotype in a Patient with a BMP2 Loss-of-Function Variant

Seiji Mizuno1, Koki Nagai3,4, Toshi Tatematsu1, Natsuki Nakamura1, Shiomi Otsuji1, Tomoko Uehara1, Hiyori Ueda1, Shin Hayashi1,2, Tetsuya Niihori4, Mie Inaba1, Yoko Aoki4 (1.Department of Pediatircs and Clinical Genetics, Aichi Developmental Disability Center Hospital, Aichi, Japan, 2.Department of Medical Genetics, Institute of Developmental Research, Aichi Developmental Disability Center, Aichi, Japan, 3.Genetics Department, Kanagawa Childrenʼs Medical Center, 4.Department of Medical Genetics, Tohoku Universitiy)

[P2-06-3]Compound heterozygous variants of PNPT1 identified in a patient with severe neurodevelopmental delay

Tomoe Yanagishita1, Rina Shimomura1,2, Akiko Takeshita1, Kyoko Hirasawa1, Kouhei Hamanaka3, Satoko Miyatake3, Satoru Nagata1, Naomichi Matsumoto3, Toshiyuki Yamamoto1,2,4 (1.Department of Pediatrics, Tokyo Women’s Medical University, Tokyo, Japan, 2.Institute of Medical Genetics, Tokyo Women’s Medical University, Tokyo, Japan, 3.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 4.Division of Gene Medicine, Graduate School of Medicine, Tokyo Women’s Medical University, Tokyo, Japan)

[P2-06-4]Immune dysregulation in females with incontinentia pigmenti: A retrospective study

Motoshi Sonoda1,2, Sungyeon Park1, Sawako Matsuzaki2, Akiko Ishikawa2, Yumiko Taura2,3, Katsuhide Eguchi1, Masataka Ishimura1, Yasunari Sakai1, Kiyoko Kato2,3 (1.Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan, 2.Department of Clinical Genetics and Medicine, Kyushu University Hospital, Fukuoka, Japan, 3.Department of Obstetrics and Gynecology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan)

[P2-06-5]Verheij syndrome with auricular malformation and plagiocephaly due to de novo in-frame deletion of PUF60

Hiroshi Yoshihashi1, Hiroshi Futagawa1, Shiho Ito1, Mariko Endo1, Yuri Yoshida1, Haruka Yamanaka1, Kentaro Fukuda1, Daisuke Nakato2, Hisato Suzuki2, Kenjiro Kosaki2 (1.Department of Clinical Genetics, Tokyo Metropolitan Childrenʼs Medical Center, 2.Center for Medical Genetics, Keio University School of Medicine)

[P2-06-6]Comparison Between PGT-A Results and the AI-Based Embryo Scoring System, iDAScore, in Our Clinic

Shouhei Komemoto1, Youichi Takemoto1, Akira Nakashima1, Shigeki Fujimoto1,2, Yuya Makino1,3, Motoi Nagayoshi1, Izumi Tanaka1, Atsushi Tanaka1, Seiji Watanabe4 (1.Saint Mother Clinic, Kitakyushu, Japan, 2.Wakamatsu Hospital of University of Occupational and Environmental Health, Kitakyushu, Japan, 3.Department of Obstetrics and Gynecology, Juntendo University School of Medicine, Bunkyo-ku, Japan, 4.Department of Anatomical Science, Hirosaki University Graduate School of Medicine, Hirosaki, Japan)

[P2-06-7]Evaluation of Cochlear Duct Length in 22q11.2 Deletion Syndrome Patients Using OTOPLAN

Kengo Oe1, Hiroshi Yamazaki1,2, Seiichi Tomotaki3 (1.Department of Otolaryngology, Head and Neck Surgery, Graduate Schoool of Medicine, Kyoto University, 2.Clinical Genetics Unit, Kyoto University Hospital, Japan, 3.Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan)

[P2-06-8]Novel Compound Heterozygous Splice Site Variants in COL11A1 Cause Autosomal Recessive Stickler Syndrome

Hironao Shirai1,2, Sachiko Ohori1,3, Kosuke Murata4, Keiko Takahashi1, Naomi Araki1, Fumio Takada1,2,5 (1.Division of Genetics, Kitasato University Hospital, Kanagawa, Japan, 2.Department of Pediatrics, Kitasato University School of Medicine, Kanagawa, Japan, 3.Department of Clinical Genetics, St. Marianna University Hospital, Kanagawa, Japan, 4.Department of Orthopaedic Surgery, Kitasato University School of Medicine, Kanagawa, Japan, 5.Department of Medical Genetics and Genomics, Kitasato University Graduate School of Medical Sciences, Kanagawa, Japan)

[P2-06-9]An adult case with 22q11.2 deletion syndrome presenting with recurrent hyperventilation attacks

Yuka Yotsumoto1, Yuuki Kikuyama2, Hisatsugu Tachibana3, Miwako Nagasaka1, Tomoko Tamaoki1 (1.Center for Clinical and Molecular Genetics, Takatsuki General Hospital, Takatsuki, Japan, 2.Department of Psychiatry, Shin-Abuyama Hospital, Takatsuki, Japan, 3.Department of Neurology, Takatsuki General Hospital, Takatsuki, Japan)

[P2-06-10]Three cases where short-read NGS facilitated the diagnosis of genetic disorders associated with structural variants

Kenichiro Nakamura1,3, Takao Matsuda2, Takuya Hanaoka1,3, Shintaro Iwao1, Katsumasa Goto1, Etsuro Matsubara3, Noriyuki Kimura3 (1.Department of Neurology, NHO Nishibeppu National Hospital, 2.Department of Reproductive Medicine and Genetics, NHO Nishibeppu National Hospital, 3.Department of Neurology, Faculty of Medicine, Oita University)

[P2-06-11]Establishment of a sanger sequencing system following comprehensive genetic testing by NGS

Kohei Maeda, Takeru Nakabayashi, Satoshi Yuhara (SRL, Inc)

[P2-06-12]Evaluation of GestaltMatcher using patient data of congenital syndromes with facial phenotypes in Japan

Hiroyuki Mishima1,2, Tzung-Chien Hsieh3, Toyofumi Fujiwara4, Jing-Mei Li3, Sumito Dateki5, Koh-ichiro Yoshiura1,2, Tatsuro Kondoh6 (1.Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki, Japan, 2.Department of Human Genetics, Leading Medical Research Core Unit, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan, 3.Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universitaet Bonn, Bonn, Germany, 4.Database Center for Life Science, Joint Support-Center for Data Science Research, Research Organization of Information and Systems, Chiba, Japan, 5.Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan, 6.Misakaenosono Mutsumi Developmental, Medical, and Welfare Center, Isahaya, Japan)

[P2-06-13]A case of hereditary angioedema diagnosed during pregnancy with successful treatment using C1 inhibitor

Tomo Suzuki1, Aiko Sasaki1, Akitsu Higuchi1, Kayoko Kaneko1, Kotaro Umezawa2, Kiwako Yamamoto2, Fumika Shimizu1, Kazuki Yamano1, Yuri Nakao1, Yuuki Kakinuma1, Taishin Kido1, Rinko Ibi1, Chihiro Nishino1, Akira Naomi1, Rina Akaishi1, Naoko Arata3, Seiji Wada1 (1.Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan, 2.Allergy Center, National Center for Child Health and Development, 3.Integrated Center for Womenʼs Health, National Center for Child Health and Development)

[P2-06-14]Chronic Enteropathy Associated with SLCO2A1 Due to a Novel Homozygous Splice Variant Identified in Adulthood

Tetsuya Okazaki1,2,3, Shinjiro Takagi4, Haruka Tada3, Hiroko Fujita3, Kyohei Kai3, Akira Hirasawa1,2,3 (1.Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan, 2.Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan, 3.Department of Genetic Medicine, Japanese Red Cross Society, Himeji Hospital, Himeji, Japan, 4.Department of Internal Medicine, Japanese Red Cross Society, Himeji Hospital, Himeji, Japan)