The 69th Annual Meeting of the Japan Society of Human Genetics
Advanced Search

Poster presentation

Poster Session

Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC

Narrow down the search

Filter search results

[P1-01-1]NIPT status of our hospital before and after establishment of a steering committee for prenatal testing certification

○Ayumi Okuyama1,2, Makiko Tominaga1,3, Kiyotake Ichizuka1,2, Ayano Sakurai1, Mikiko Izumi1,4, Akiko Sakashita1,5
(1.Center for Clinical Genetics and Genome Medicine,Showa University Northern Yokohama Hospital, Kanagawa, Japan, 2.Showa University Northern Yokohama Hospital, Obstetrics and Gynecology, 3.Showa University Northern Yokohama Hospital, Children's Medical Center, 4.Showa University Hospital, Center for Clinical Genetics, 5.Showa University Northern Yokohama Hospital, Internal Medicine)

Poster Session
[P1-01]Poster Session 1-01　Genetic Counseling 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-01-2]A Case of Genetic Counseling for a potential 22q11.2 Deletion Syndrome indicated by NIPT at an unauthorized facility

○Haruka Bamba1, Mie Tahara2, Eri Sakai1, Chie Ono1, Yukiko Jogu1, Kohei Kitada2, Makiko Fuyuki3, Kosuke Ito1, Tomoyo Yamashita1,3, Junko Hotta1,3, Toshiyuki Seto1,3, Daisuke Tachibana2, Sumi Toshiyuki4
(1.Department of Medical Genetics, Osaka Metropolitan University Graduate School of Medicine, 2.Department of Women's Life Care Medicine, Osaka Metropolitan University Graduate School of Medicine, 3.Department of Pediatrics, Osaka Metropolitan University Graduate School of Medicine, 4.Department of Gynecological Oncology, Osaka Metropolitan University Graduate School of Medicine)

Poster Session
[P1-01]Poster Session 1-01　Genetic Counseling 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-01-3]Experience of genetic counseling for clients with consecutive pregnancies of fetus with standard trisomy 21

○Sawada Yuki1, Hiroaki Hanafusa1,2, Keiko Tanaka1, Hitomi Imahuku3, Yoshitaka Asagai1,2, Ryosuke Bo1,2, Tomonari Kunihisa1,4, Akiharu Kubo1,5, Kandai Nozu1,2
(1.Department of Medical Genetics, Kobe University Hospital, Kobe, Japan, 2.Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan, 3.Department of Obstetrics and Gynecology, Kobe University Hospital, Kobe, Japan, 4.Department of Breast and Endocrine Surgery, Kobe University Hospital, Kobe, Japan, 5.Department of Dermatology, Kobe University Graduate School of Medicine, Kobe, Japan)

Poster Session
[P1-01]Poster Session 1-01　Genetic Counseling 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-01-4]The decision making of couples which did not undergo any prenatal test after genetic counseling at our hospital

○Ayano Sakurai1, Makiko Tominaga1,2, Ayumi Okuyama1,3, Mikiko Izumi1,4, Kiyotake Ichizuka1,3, Akiko Sakashita1,5
(1.Center for Clinical Genetics and Genomic Medicine, Showa University Northern Yokohama Hospital, Kanagawa, Japan, 2.Children Medical Center, Showa University Northern Yokohama Hospital, Kanagawa, Japan, 3.Department of Obstetrics and Gynecology, Showa University Northern Yokohama Hospital, 4.Center for Clinical Genetics, Showa University Hospital, Tokyo, Japan, 5.Internal Medicine, Showa University Northern Yokohama Hospital)

Poster Session
[P1-01]Poster Session 1-01　Genetic Counseling 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-01-5]The feelings of the family of a child diagnosed with SMA following extended NBS and the limitations of genetic analysis

○Maho Ogiwara1, Yuika Ono1, Minami Ozawa1,2, Ayako Matsunaga1,2, Sachiko Ohori1,3, Yusaku Miyamoto2, Naoki Shimizu2, Ohsuke Migita1,3
(1.Department of Clinical genetics, St. Marianna University Hospital, 2.Department of Pediatrics, St. Marianna University School of Medicine, 3.Department of Laboratory Medicine, St. Marianna University School of Medicine)

Poster Session
[P1-01]Poster Session 1-01　Genetic Counseling 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-01-6]Genetic counseling in a new therapeutic era for spinal muscular atrophy: a case report

○Kento Mukai1, Uiko Hanaoka1,3, Chiaki Tenkumo1,3, Tamaki Tanaka1, Megumi Ito1, Yukihiko Konishi2, Kousuke Koyano2,3, Yuka Yonehara4, Kenji Kanenishi1, Kensuke Kumamoto3, Takashi Kusaka2
(1.Department of Perinatology and Gynecology, Faculty of Medicine, Kagawa University, Kagawa, Japan, 2.Department of Pediatrics, Faculty of Medicine, Kagawa University, Kagawa, Japan, 3.Department of Clinical Genetics and Genomic Medicine, Kagawa University Hospital, Kagawa, Japan, 4.Center for Medical Genetics, Shinshu University Hospital, Nagano, Japan)

Poster Session
[P1-01]Poster Session 1-01　Genetic Counseling 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-01-7]A case of genetic counseling for a suspicious case of Fabry disease by newborn screening

○Mari Tashiro1, Mariko Araki2, Toru Kubo1,3
(1.Department of Clinical Genetics, Kochi Medical School Hospital, Kochi, Japan, 2.Department of Pediatrics, Kochi Medical School, Kochi, Japan, 3.Department of Cardiologyand Geriatrics, Kochi Medical School, Kochi, Japan)

Poster Session
[P1-01]Poster Session 1-01　Genetic Counseling 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-01-8]Genetic counseling in comprehensive genetic analysis during the neonatal period

○Tomoko Nishikawa1, Yukiko Kuroda1, Yoko Saito1, Koki Nagai1, Yasuhiro Kawai1, Takuya Naruto2, Ruriko Tachioka1, Kenji Kurosawa1
(1.Department of Medical Genetics, Kanagawa Children's Medical Center,Yokohama, Japan, 2.Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama,Japan)

Poster Session
[P1-01]Poster Session 1-01　Genetic Counseling 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-01-9]A case in which exome analysis led to the diagnosis of Alström syndrome

○Hiroko Kuriki1, Yuta Inoue6, Haruka Hamanoue1,2, Mii Takatsuka1, Shuichi Ito1,3, Tomohiro Sakaguchi1, Natsuki Fukuda4, Satoko Miyatake1,6, Naomi Tsuchida5,6, Yuri Uchiyama5,6, Etsuko Miyagi2, Naomichi Matsumoto1,5,6
(1.Department of Clinical Genetics ,Yokohama City University Hospital ,Kanagawa,Japan, 2.Department of Obstetrics & Gynecology, Yokohama City University Hospital , Kanagawa,Japan, 3.Department of Pediatrics Yokohama City University Hospital , Kanagawa,Japan, 4.Department of Nephrology/Hypertension, Yokohama City University Hospital , Kanagawa,Japan, 5.Department of Rare Disease Genomics, Yokohama City University Hospital , Kanagawa,Japan, 6.Department of Human Genetics, Yokohama City University Graduate School l of Medicine, Kanagawa,Japan)

Poster Session
[P1-01]Poster Session 1-01　Genetic Counseling 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-01-10]A case of genetic counseling involving a missense variant in ACAT1 detected by direct-to-consumer genetic testing

○Mio Mukainakano1, Masaaki Matsushima1,2,3, Yuka Shibata1, Ichiro Yabe1,2, Takahiro Yamada1
(1.Division of Clinical Genetics, Hokkaido University Hospital, Sapporo, Japan, 2.Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan, 3.Health Care Center, Hokkaido University, Sapporo, Japan)

Poster Session
[P1-01]Poster Session 1-01　Genetic Counseling 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-01-13]A case of X-autosomal balanced translocation

○Yuko Matsubara1,2, Matome Imai1, Akiko Yano1, Shoko Murakami1, Yuka Uchikura1, Keiichi Matsubara1, Takashi Sugiyama1, Erina Ozaki2, Mariko Eguchi2
(1.Department of Obstetrics and Gynecology, Ehime University Graduate School of Medicine, Toon, Japan, 2.Department of Clinical Genetics, Ehime University Graduate School of Medicine)

Poster Session
[P1-01]Poster Session 1-01　Genetic Counseling 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-01-14]A case of Kallmann syndrome diagnosed by a novel FGFR1 gene mutation and had a live birth after long-term management

○Itsuki Kajimura1, Shoko Miura1, Sayaka Kawashita1, Riko Matsuda3, Yuriko Kitajima1, Yuri Hasegawa1, Hiroyuki Mishima2, Akira Kinoshita2, Koh-ichiro Yoshiura2, Kiyonori Miura1
(1.Department of Obstetrics and Gynecology, Nagasaki University Hospital, Nagasaki, Japan, 2.Department of human genetics, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, 3.Clinical Genomics Center, Nagasaki University Hospital)

Poster Session
[P1-01]Poster Session 1-01　Genetic Counseling 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-01-15]Genetic counseling for a patient with mixed gonadal dysgenesis following amniotic fluid testing

○Satano Hanae1, Ayana Tsuboi1,2, Tetsuaki Hara1,3, Miho Kodama4, Norio Miharu5, Kenjiro Date4, Minako Hikita6, Seiko Maeno7, Kanako Iwami1,8, Mihoko Doi1
(1.Department of Genomic Medicine, Hiroshima Prefectural Hospital, Hiroshima, Japan, 2.Department of Pediatrics, Hiroshima Prefectural Hospital, Hiroshima, Japan, 3.Division of Reproductive Medicine, Hiroshima Prefectural Hospital, Hiroshima, Japan, 4.Department of Obstetrics & Gynecology, Hiroshima Red Cross Hospital & Atomic-bomb Survivors Hospital, Hiroshima, Japan, 5.Department of Clinical Genetics, Hiroshima Red Cross Hospital & Atomic-bomb Survivors Hospital, Hiroshima, Japan, 6.Department of Nursing, Hiroshima Red Cross Hospital & Atomic-bomb Survivors Hospital, Hiroshima, Japan, 7.Department of Neonatology, Hiroshima Prefectural Hospital, Hiroshima, Japan, 8.Department of Nursing, Hiroshima Prefectural Hospital, Hiroshima, Japan)

Poster Session
[P1-01]Poster Session 1-01　Genetic Counseling 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-01-16]A case of mitochondrial disease leading to health care for three generations

○Hiroaki Takaso1, Itsuki Oda2, Atsuko Ikegawa1,2, Mirei Tsuchiyama2, Ayami Nakamura2,Yoshihito Kishita1, Kazumasa Saigoh1,2
(1.Department of Life Science, Graduate School of Science and Engineering, Kindai University, 2.Department of Clinical Genetics, Kindai University Hospital)

Poster Session
[P1-01]Poster Session 1-01　Genetic Counseling 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-01-17]A case of genetic counseling for the parents whose daughter is an obligate carrier of hemophilia A

○Yuki Nakata1, Hiroaki Hanafusa1,2, Keiko Tanaka2, Yuki Sawada2, Ryosuke Bo1,2, Kandai Nozu1,2
(1.Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan, 2.Department of Medical Genetics, Kobe University Hospital, Kobe, Japan)

Poster Session
[P1-01]Poster Session 1-01　Genetic Counseling 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-01-18]Genetic counseling for two families with cryopyrin-associated periodic fever syndrome

○Yumiko Kobayashi1, Kayono Yamamoto1, Nobuhiro Suzumori1, Shin-ichi Usami2, Shin-ya Nishio2
(1.Department of Clinical Genetics, Iwate Medical University, Iwate, Japan, 2.Department of Hearing Implant Sciences, Shinshu University School of Medicine)

Poster Session
[P1-01]Poster Session 1-01　Genetic Counseling 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-01-19]Genetic analysis of family members to evaluate VUS in FLCN detected in a proband diagnosed with Birt-Hogg-Dube syndrome

○Tomomi Oka1, Takeshi Nakajima1,2, Sayaka Honda1, Kiminobu Tanizawa3,4, Masahiro Gotoh5, Makoto Hirata6, Akiko Yoshida1,7, Masako Torishima1,7, Hiromi Murakami1,2, Akira Inaba1, Akari Minamoto1, Sayoko Haruyama1, Kawasaki Hidenori1,7, Masanobu Ogawa1,8, Takahito Wada1,7, Shinji Kosugi1,2,7
(1.Clinical Genetics Unit, Kyoto University Hospital, 2.School of Public Health, Medical Ethics and Medical Genetics, Graduate School of Medicine, Kyoto University, 3.Division of Respiratory Medicine, Center for Respiratory Diseases, National Hospital Organization Kyoto Medical Center, 4.Department of Respiratory Medicine, Graduate School of Medicine, Kyoto University, 5.Department of Clinical Genomics, National Cancer Center Research Institute, 6.Department of Genetic Medicine and Services, National Cancer Center Hospital, 7.Department of Genomic Medicine, Graduate School of Medicine, Kyoto University, 8.Ethics Support Unit, Kyoto University Hospital)

Poster Session
[P1-01]Poster Session 1-01　Genetic Counseling 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-01-20]Genetic counseling for brothers and the family diagnosed with X-linked lymphoproliferative syndrome

○Maki Taniguchi1, Kana Hiromoto1, Shuro Nishio2, Toshiaki Ishida2, Daiichiro Hasegawa1,2, Kandai Nozu3, Naoya Morisada1,3,4
(1.Department of Genome Medical Center, Hyogo Prefectural Kobe Children's Hospital, 2.Department of Hematology and Oncology, Hyogo Prefectural Kobe Children's Hospital, 3.Department of Pediatrics, Kobe University Graduate School of Medicine, 4.Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital)

Poster Session
[P1-01]Poster Session 1-01　Genetic Counseling 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-01-22]Genetic counseling for two cases with HBOC who underwent risk-reducing salpingo-oophorectomy in their 30s

○Emiko Kise1,2, Tomomi Kojima1, Akiko Sakyu1, Yuka Yonehara1, Tsutomu Miyamoto3, Hisanori Kobara3, Tomoki Kosho1,4,5,6,7
(1.Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan, 2.Department of Nursing, Shinshu University Hospital, Matsumoto, Japan, 3.Department of Obstetrics and Gynecology, Shinshu University Hospital, Matsumoto, Japan, 4.Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan, 5.Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan, 6.BioBank Shinshu, Shinshu University Hospital, Matsumoto, Japan, 7.Research Center for Advanced Science and Technology, Shinshu University, Matsumoto, Japan)

Poster Session
[P1-01]Poster Session 1-01　Genetic Counseling 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-01-24]The indications and implementation of BRCA testing in consecutive patients who underwent breast cancer surgery

○Chika Sato1,2, Tomoharu Sugie3, Hirotsugu Yanai1,4, Chiaki Matsui4, Manami Tada4, Chie Hirai4, Yuichiro Kikawa4, Saki Shimada1,2, Hiroyasu Tsukaguchi1, Hidetaka Okada2, Masahiro Takada4
(1.Clinical Genetics Center, Kansai Medical University Hospital, Hirakata, Japan, 2.Department of Obstetrics and Gynecology, Kansai Medical University, Hirakata, Japan, 3.Department of Breast Surgery, Kansai Medical University Kori Hospital, Hirakata, Japan, 4.Department of Breast Surgery, Kansai Medical University, Hirakata, Japan)

Poster Session
[P1-01]Poster Session 1-01　Genetic Counseling 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-01-26]Genetic Counseling for Hereditary Hearing Loss - Report of the 21st Annual Meeting of the NLCCSMG, Workshop 6-

○Yuko Kataoka1, Yasuhiro Arai2, Fumino Kato3, Hiroko Fujita3,4, Mii Takatsuka5, Akira Hirasawa3
(1.Hearing Health Center, Okayama University, Okayama, Japan, 2.Department of Otorhinolaryngology, Yokohama City University, 3.Department of Clinical Genetics, Okayama University Hospital, 4.Genetics Department, Himeji Red Cross Hospital, 5.Genetic Medical Department, Yokohama City University)

Poster Session
[P1-01]Poster Session 1-01　Genetic Counseling 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-01-28]The process of preclinical diagnosis and genetic counseling for relatives of patientswith COL3A1-related arteriopathy

○Nana Akiyama1,4, Hiroki Yagi2,4, Hyangri Chang1,4, Ryo Inuduka1,3, Norifumi Takeda2,4
(1.Department of Genomic Medicine, The University of Tokyo Hospital, Tokyo, Japan, 2.Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, 3.Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, 4.Marfan Syndrome Center, The University of Tokyo Hospital, Tokyo, Japan)

Poster Session
[P1-01]Poster Session 1-01　Genetic Counseling 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-01-29]Review of cases disclosing secondary findings in comprehensive genomic profiling tests

○Shoko Miura1, Megumi Matsumoto2,3, Riko Matsuda2, Yumi Takahashi2, Yuri Hasegawa1, Yuriko Kitajima1, Ai Nagata1, Itsuki Kajimura1, Sayaka Kawashita1, Nahoko Komatsu1, Kazuto Ashizawa4, Bungo Furusato4, Souda Masakazu4, Emiko Udo4, Koh-ichiro Yoshiura5, Kiyonori Miura1,2
(1.Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, 2.Genetic counseling unit, Clinical Genomics Center, Nagasaki University Hospital, 3.Department of Breast Surgery, Japanese Red Cross Nagasaki Genbaku Hospital, 4.Cancer Genomics unit, Clinical Genomics Center, Nagasaki University Hospital, 5.Department of Human genetics, Atomic Bomb Disease Institute, Nagasaki University)

Poster Session
[P1-01]Poster Session 1-01　Genetic Counseling 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-01-30]Significance of Proposing Multigene Panel Testing for Patients with Suspected Lynch Syndrome

○Sadia Matsutani1, Hiromi Sugawara1, Megumi Mukai1, Risa Goto1, Saki Hinoshita1,2, Miyuki Kawamura1,3, Hideki Sakai1,3, Mitsunori Morita1,3, Takuma Onoe1,3, Takashi Shibutani1,4, Kyoko Hamasaki1,4, Koichi Hirokaga1,5, Tamura Kazuo1, Koji Matsumoto1,3
(1.Division of Clinical Genetics, Hyogo Cancer Center, Hyogo, Japan, 2.Division of Nursing, Hyogo Cancer Center, Hyogo, Japan, 3.Department of Medical Oncology, Hyogo Cancer Center, Hyogo, Japan, 4.Department of Gynecologic Oncology, Hyogo Cancer Center, Hyogo, Japan, 5.Department of Breast Surgery, Hyogo Cancer Center, Hyogo, Japan)

Poster Session
[P1-01]Poster Session 1-01　Genetic Counseling 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-02-1]IRUD provided accurate diagnosis and optimal treatment for patients with undiagnosed genetic diseases

○Kyoko Moritani1, Yuzuki Ooki1, Takahiro Motoki1, Erina Ozaki2, Miho Nagata3, Yasuki Ishihara3,5, Yohei Miyashita3,4,5, Yoshihiro Asano3,4,5, Minenori Ishimae1, Mariko Eguchi1,2
(1.Department of Pediatrics, Ehime University Hospital,Toon,Japan, 2.Division of Medical Genetics,Ehime University Hospital,Toon,Japan, 3.Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Suita, Japan, 4.Department of Genomic Medicine, National Cerebral and Cardiovascular Center, Osaka, Japan, 5.Biobank, Open Innovation Center, National Cerebral and Cardiovascular Center, Osaka, Japan)

Poster Session
[P1-02]Poster Session 1-02　Clinical Genetics 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-02-3]Predictive genetic testing for late-onset, inherited neurological diseases in Japan: a case series of 40 clients

○Makiko Egawa1,2, Kinya Ishikawa3, Eriko Takamine1,4, Sayako Takahashi1, Mariko Komine1, Hiroko Kohbata1, Maki Gau1, Taro Ishiguro3, Yusuke Ebana1, Masayuki Yoshida1
(1.Department of medical genetics, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan, 2.Department of Nutrition and Metabolism in Cardiovascular Disease, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan, 3.Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan, 4.Department of Precision Cancer Medicine, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan)

Poster Session
[P1-02]Poster Session 1-02　Clinical Genetics 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-02-4]Reanalysis of cases previously analyzed by chromosomal microarray is useful

○Keiko Wakui1,2, Motoko Kamiya2,3, Tomoki Kosho1,2,4, Kyoko Takano1,2
(1.Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan, 2.Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan, 3.Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan, 4.Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan)

Poster Session
[P1-02]Poster Session 1-02　Clinical Genetics 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-02-5]Role of genetic specialists in adult transition support for patients with childhood-onset genetic conditions

○Miho Osako1,2, Mariko Komine1,3, Hironao Numabe1, Yoko Mochizuki2
(1.Department of Genetic Medicine, Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled, 2.Department of Neuroloy, Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled, 3.Department of Genetic Medicine, Tokyo Medical and Dental University Hospital)

Poster Session
[P1-02]Poster Session 1-02　Clinical Genetics 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-02-6]Our Approach to Genetic Diagnosis and Management of Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)

○Yuko Yokohama1, Yoshio Makita2, Yasuhito Katou1, Mishie Tanino3, Sayaka Yuzawa3
(1.Department of Obstetrics and Gynecology, Asahikawa Medical University, 2.Department of Genetic Counseling, Asahikawa Medical University Hospital, 3.Department of Diagnostic Pathology, Asahikawa Medical University Hospital)

Poster Session
[P1-02]Poster Session 1-02　Clinical Genetics 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-02-8]" Reverse cascade genetic testing" of Fabry disease through expanded newborn screening

○Rieko Kosugi1,2, Takabayashi Naoki1, Masashi Harazaki1,3, Fumi Kurebayashi1, Yasue Horiuchi1,4, Takeshi Usui1,4
(1.Department of Medical Genetics, Shizuoka General Hospital, Shizuoka, Japan, 2.Department of Diabetes and Endocrinology , Shizuoka General Hospital, Shizuoka, Japan, 3.Department of Pediatrics, Shizuoka General Hospital, Shizuoka, Japan, 4.Shizuoka Graduate University of Public Health , Shizuoka, Japan)

Poster Session
[P1-02]Poster Session 1-02　Clinical Genetics 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-02-9]Glass syndrome derived from chromosomal breakage downstream region of SATB2

○Keiko Shimojima Yamamoto1,2, Rina Shimomura2,3, Hiromichi Shoji4, Toshiyuki Yamamoto2,5
(1.Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan, 2.Division of Gene Medicine, Graduate School of Medicine, Tokyo Women's Medical University, Tokyo, Japan, 3.Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan, 4.Department of Pediatrics, Juntendo University Faculty of Medicine, Tokyo, Japan, 5.Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan)

Poster Session
[P1-02]Poster Session 1-02　Clinical Genetics 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-02-10]Atypical low-middle frequency hearing loss in a case with POU4F3 mutation

○Kengo Oe1,2, Hiroshi Yamazaki1,2, Akiko Yoshida2, Akari Minamoto2, Shinobu Sato2, Mirei Taniguchi1,2
(1.Department of Otolaryngology-Head and Neck Surgery, Graduate School of Medicine, Kyoto University, Japan, 2.Clinical Genetics Unit, Kyoto University Hospital, Japan)

Poster Session
[P1-02]Poster Session 1-02　Clinical Genetics 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-02-11]Chyluria in a patient with RIT1 associated Noonan syndrome

○Hiroaki Murakami1,2,3, Tatsuya Sakashita2,3, Emiko Kobayashi1,2, Kunihiro Matsunami2, Kuniko Tokoro1,2, Eiji Matsukuma2, Atsushi Imamura2, Hideo Kaneko1,2,3
(1.Department of Pediatric Medical Care, Gifu Prefectural General Medical Center, Gifu, Japan, 2.Department of Pediatrics, Gifu Prefectural General Medical Center, Gifu, Japan, 3.Department of Medical Genetics, Gifu Prefectural General Medical Center, Gifu, Japan)

Poster Session
[P1-02]Poster Session 1-02　Clinical Genetics 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-02-12]Congenital protein S deficiency families with the proband diagnosis leading to appropriate prevention in blood relatives

○Kozue Takano1,2, Reiko Arakawa1,2, Akiko Takeshige3, Takeshi Inagaki3, Norihiro Kato1,2
(1.Department of Genomic Medicine, Center Hospital, National Center for Global Health and Medicine, 2.Medical Genomics Center, Research Institute, National Center for Global Health and Medicine, 3.Department of General Internal Medicine, Center Hospital, National Center for Global Health and Medicine)

Poster Session
[P1-02]Poster Session 1-02　Clinical Genetics 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-02-13]Deep venous thrombosis during pregnancy associated with hereditary antithrombin deficiency: A case report

○Iiji Koh1, Kaoru Kawasaki1, Kaori Moriuchi1, Itsuki Oda2, Atsuko Ikegawa2, Yoshie Yo1, Kazumasa Saigoh2, Noriomi Matsumura1,2
(1.Department of Obstetrics and Gynecology, KINDAI University, Osaka, Japan, 2.Department of Human Genetics, Kindai University, Osaka, Japan)

Poster Session
[P1-02]Poster Session 1-02　Clinical Genetics 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-02-14]Digital clubbing without hypoxia for lysinuric protein intolerance

○Daisuke Watanabe1, Daisuke Nakato1, Mamiko Yamada1, Takuma Ohnishi2, Naotaka Tamai2, Toshihide Kijima2, Fuyuki Miya1, Kenjiro Kosaki1
(1.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan, 2.Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan)

Poster Session
[P1-02]Poster Session 1-02　Clinical Genetics 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-02-15]Accessory nerve impairment is a characteristic phenotype of CHARGE syndrome

○Tomoko Uehara1, Natsuki Nakamura1, Shiomi Otsuji1, Seiji Mizuno1, Shin Hayashi2, Mie Inaba1
(1.Department of Pediatric Internal Medicine and Clinical genetics, Aichi Developmental Disability Center Central Hospital, Aichi, Japan, 2.Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Aichi, Japan)

Poster Session
[P1-02]Poster Session 1-02　Clinical Genetics 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-02-16]Three cases of Birt-Hogg-Dubé syndrome

○Shinsuke Ninomiya1, Takahiro Hayashi1,2, Yohei Kosugi1,2, Rie Kawakita1,2
(1.Department of Clinical Genetics, Kurashiki Central Hospital, 2.Department of Pediatrics, Kurashiki Central Hospital)

Poster Session
[P1-02]Poster Session 1-02　Clinical Genetics 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-02-17]Two cases with hereditary hemorrhagic telangiectasia with ACVRL1 mutation

○Mayumi Komine1, Yoshiko Yanagisawa2, Naomi Nakano1, Fuminori Yamamoto1,3, Tohru Matsuura4, Mamitaro Ohtsuki1
(1.Department of Dermatology, Jichi Medical University, Tochigi, Japan, 2.Department of Oncology, Jichi Medical University, 3.Department of Dermatology, The University of Tokyo, 4.Department of Neurology, Jichi Medical University)

Poster Session
[P1-02]Poster Session 1-02　Clinical Genetics 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-03-2]Three patients with BRCA2 pathogenic variants requiring special interpret

○Midori Noma1,2, Mihoko Doi1, Yuko Shiroyama1,3, Kanako Iwami1, Hanae Satano1, Yukiko Kajiwara4, Yusaku Urakawa5, Hideki Yamamoto5, Akira Hirasawa5, Yasuko Yamamoto6
(1.Department of Genomic Medicine, Hiroshima Prefectural Hospital, 2.Department of Breast Surgery, Hiroshima Prefectural Hospital, 3.Department of Obstetrics and Gynecology, Hiroshima Prefectural Hospital, 4.Department of Breast Surgery, Hiroshima City Hiroshima Citizens Hospital, 5.Department of Clinical Genomic Medicine, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, 6.Department of Hereditary Cancer, National Hospital Organization, Shikoku Cancer Center)

Poster Session
[P1-03]Poster Session 1-03　Cancer Genetics 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-03-3]Three cases of HBOC syndrome with breast cancer detected during breast surveillance

○Mizuho Takahashi1, Hiroyuki Maeda1, Hiroko Kouno1, Kazumi Ikeda2, Yoshiaki Imamura3, Hideaki Tsuyoshi4, Masamichi Ikawa2, Takanori Goi1
(1.Department of First Surgery, University of Fukui, Fukui, Japan, 2.Department of Genetic Medicine, University of Fukui Hospital, 3.Department of Pathology, University of Fukui Hospital, 4.Obstetrics and Gynecology, University of Fukui)

Poster Session
[P1-03]Poster Session 1-03　Cancer Genetics 1
Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room
161 results ( 1 - 50 )
  • 1
Back to Timetable