No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients
2005; Wiley; Volume: 140A; Issue: 3 Linguagem: Inglês
10.1002/ajmg.a.31012
ISSN1552-4833
AutoresNoriko Miyake, Osamu Shimokawa, Naoki Harada, Nadia Sosonkina, Aiko Okubo, Hiroki Kawara, Nobuhiko Okamoto, Hirofumi Ohashi, Kenji Kurosawa, Kenji Naritomi, Tadashi Kaname, Toshiro Nagai, Vorasuk Shotelersuk, Jia‐Woei Hou, Yoshimitsu Fukushima, Tatsuro Kondoh, Tadashi Matsumoto, Toshihiko Shinoki, Mitsuhiro Kato, Hidefumi Tonoki, Masayo Nomura, Ko‐ichiro Yoshiura, Tatsuya Kishino, Tohru Ohta, Norio Niikawa, Naomichi Matsumoto,
Tópico(s)Genetic factors in colorectal cancer
ResumoAmerican Journal of Medical Genetics Part AVolume 140A, Issue 3 p. 291-293 Research Letter No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients Noriko Miyake, Noriko Miyake Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan CREST, Japan Science and Technology Agency, Kawaguchi, Japan Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, JapanSearch for more papers by this authorOsamu Shimokawa, Osamu Shimokawa Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan CREST, Japan Science and Technology Agency, Kawaguchi, Japan Kyushu Medical Science Nagasaki Laboratory, Nagasaki, JapanSearch for more papers by this authorNaoki Harada, Naoki Harada Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan CREST, Japan Science and Technology Agency, Kawaguchi, Japan Kyushu Medical Science Nagasaki Laboratory, Nagasaki, JapanSearch for more papers by this authorNadia Sosonkina, Nadia Sosonkina Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan CREST, Japan Science and Technology Agency, Kawaguchi, JapanSearch for more papers by this authorAiko Okubo, Aiko Okubo Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, JapanSearch for more papers by this authorHiroki Kawara, Hiroki Kawara Kyushu Medical Science Nagasaki Laboratory, Nagasaki, JapanSearch for more papers by this authorNobuhiko Okamoto, Nobuhiko Okamoto Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, JapanSearch for more papers by this authorHirofumi Ohashi, Hirofumi Ohashi Division of Medical Genetics, Saitama Children's Medical Center, Iwatsuki, JapanSearch for more papers by this authorKenji Kurosawa, Kenji Kurosawa Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, JapanSearch for more papers by this authorKenji Naritomi, Kenji Naritomi Department of Medical Genetics, University of the Ryukyus School of Medicine, Nishihara, JapanSearch for more papers by this authorTadashi Kaname, Tadashi Kaname Department of Medical Genetics, University of the Ryukyus School of Medicine, Nishihara, JapanSearch for more papers by this authorToshiro Nagai, Toshiro Nagai Department of Pediatrics, Koshigaya Hospital, Dokkyo University School of Medicine, Koshigaya, JapanSearch for more papers by this authorVorasuk Shotelersuk, Vorasuk Shotelersuk Department of Pediatrics, Faculty of Medicine, Chulalongkorn University and Hospital, Bangkok, ThailandSearch for more papers by this authorJia-Woei Hou, Jia-Woei Hou Department of Pediatrics, Division of Medical Genetics/Metabolism, Chang Gung Children's Hospital, Taoyuan, TaiwanSearch for more papers by this authorYoshimitsu Fukushima, Yoshimitsu Fukushima Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, JapanSearch for more papers by this authorTatsuro Kondoh, Tatsuro Kondoh Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, JapanSearch for more papers by this authorTadashi Matsumoto, Tadashi Matsumoto Department of Nursing, Nagasaki University School of Health Sciences, Nagasaki, JapanSearch for more papers by this authorToshihiko Shinoki, Toshihiko Shinoki Department of Pediatrics, Mie University School of Medicine, Tsu, JapanSearch for more papers by this authorMitsuhiro Kato, Mitsuhiro Kato Department of Pediatrics, Yamagata University School of Medicine, Yamagata, JapanSearch for more papers by this authorHidefumi Tonoki, Hidefumi Tonoki Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, JapanSearch for more papers by this authorMasayo Nomura, Masayo Nomura Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan CREST, Japan Science and Technology Agency, Kawaguchi, JapanSearch for more papers by this authorKo-ichiro Yoshiura, Ko-ichiro Yoshiura Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan CREST, Japan Science and Technology Agency, Kawaguchi, JapanSearch for more papers by this authorTatsuya Kishino, Tatsuya Kishino CREST, Japan Science and Technology Agency, Kawaguchi, Japan Division of Functional Genomics, Center for Frontier Life Sciences, Nagasaki University, Nagasaki, JapanSearch for more papers by this authorTohru Ohta, Tohru Ohta CREST, Japan Science and Technology Agency, Kawaguchi, Japan The Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido, Ishikari-tobetsu, JapanSearch for more papers by this authorNorio Niikawa, Norio Niikawa Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan CREST, Japan Science and Technology Agency, Kawaguchi, JapanSearch for more papers by this authorNaomichi Matsumoto, Corresponding Author Naomichi Matsumoto [email protected] CREST, Japan Science and Technology Agency, Kawaguchi, Japan Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, JapanDepartment of Human Genetics, Yokahama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama 236-0004, Japan.Search for more papers by this author Noriko Miyake, Noriko Miyake Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan CREST, Japan Science and Technology Agency, Kawaguchi, Japan Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, JapanSearch for more papers by this authorOsamu Shimokawa, Osamu Shimokawa Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan CREST, Japan Science and Technology Agency, Kawaguchi, Japan Kyushu Medical Science Nagasaki Laboratory, Nagasaki, JapanSearch for more papers by this authorNaoki Harada, Naoki Harada Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan CREST, Japan Science and Technology Agency, Kawaguchi, Japan Kyushu Medical Science Nagasaki Laboratory, Nagasaki, JapanSearch for more papers by this authorNadia Sosonkina, Nadia Sosonkina Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan CREST, Japan Science and Technology Agency, Kawaguchi, JapanSearch for more papers by this authorAiko Okubo, Aiko Okubo Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, JapanSearch for more papers by this authorHiroki Kawara, Hiroki Kawara Kyushu Medical Science Nagasaki Laboratory, Nagasaki, JapanSearch for more papers by this authorNobuhiko Okamoto, Nobuhiko Okamoto Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, JapanSearch for more papers by this authorHirofumi Ohashi, Hirofumi Ohashi Division of Medical Genetics, Saitama Children's Medical Center, Iwatsuki, JapanSearch for more papers by this authorKenji Kurosawa, Kenji Kurosawa Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, JapanSearch for more papers by this authorKenji Naritomi, Kenji Naritomi Department of Medical Genetics, University of the Ryukyus School of Medicine, Nishihara, JapanSearch for more papers by this authorTadashi Kaname, Tadashi Kaname Department of Medical Genetics, University of the Ryukyus School of Medicine, Nishihara, JapanSearch for more papers by this authorToshiro Nagai, Toshiro Nagai Department of Pediatrics, Koshigaya Hospital, Dokkyo University School of Medicine, Koshigaya, JapanSearch for more papers by this authorVorasuk Shotelersuk, Vorasuk Shotelersuk Department of Pediatrics, Faculty of Medicine, Chulalongkorn University and Hospital, Bangkok, ThailandSearch for more papers by this authorJia-Woei Hou, Jia-Woei Hou Department of Pediatrics, Division of Medical Genetics/Metabolism, Chang Gung Children's Hospital, Taoyuan, TaiwanSearch for more papers by this authorYoshimitsu Fukushima, Yoshimitsu Fukushima Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, JapanSearch for more papers by this authorTatsuro Kondoh, Tatsuro Kondoh Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, JapanSearch for more papers by this authorTadashi Matsumoto, Tadashi Matsumoto Department of Nursing, Nagasaki University School of Health Sciences, Nagasaki, JapanSearch for more papers by this authorToshihiko Shinoki, Toshihiko Shinoki Department of Pediatrics, Mie University School of Medicine, Tsu, JapanSearch for more papers by this authorMitsuhiro Kato, Mitsuhiro Kato Department of Pediatrics, Yamagata University School of Medicine, Yamagata, JapanSearch for more papers by this authorHidefumi Tonoki, Hidefumi Tonoki Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, JapanSearch for more papers by this authorMasayo Nomura, Masayo Nomura Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan CREST, Japan Science and Technology Agency, Kawaguchi, JapanSearch for more papers by this authorKo-ichiro Yoshiura, Ko-ichiro Yoshiura Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan CREST, Japan Science and Technology Agency, Kawaguchi, JapanSearch for more papers by this authorTatsuya Kishino, Tatsuya Kishino CREST, Japan Science and Technology Agency, Kawaguchi, Japan Division of Functional Genomics, Center for Frontier Life Sciences, Nagasaki University, Nagasaki, JapanSearch for more papers by this authorTohru Ohta, Tohru Ohta CREST, Japan Science and Technology Agency, Kawaguchi, Japan The Research Institute of Personalized Health Sciences, Health Sciences University of Hokkaido, Ishikari-tobetsu, JapanSearch for more papers by this authorNorio Niikawa, Norio Niikawa Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan CREST, Japan Science and Technology Agency, Kawaguchi, JapanSearch for more papers by this authorNaomichi Matsumoto, Corresponding Author Naomichi Matsumoto [email protected] CREST, Japan Science and Technology Agency, Kawaguchi, Japan Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, JapanDepartment of Human Genetics, Yokahama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama 236-0004, Japan.Search for more papers by this author First published: 08 November 2005 https://doi.org/10.1002/ajmg.a.31012Citations: 18Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES Engelen JJ, Loneus WH, Vaes-Peeters G, Schrander-Stumpel CT. 2005. Kabuki syndrome is not caused by an 8p duplication: A cytogenetic study in 20 patients. Am J Med Genet A 132A: 276–277. Hoffman JD, Zhang Y, Greshock J, Ciprero KL, Emanuel BS, Zackai EH, Weber BL, Ming JE. 2005. Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome. J Med Genet 42: 49–53. Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I. 1981. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 99: 570–573. Matsumoto N, Niikawa N. 2003. Kabuki make-up syndrome: A review. Am J Med Genet C Semin Med Genet 117C: 57–65. Milunsky JM, Huang XL. 2003. Unmasking Kabuki syndrome: Chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH. Clin Genet 64: 509–516. Miyake N, Harada N, Shimokawa O, Ohashi H, Kurosawa K, Matsumoto T, Fukushima Y, Nagai T, Shotelersuk V, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. 2004. On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS. Am J Med Genet A 128A: 170–172. Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Kurosawa K, Kawame H, Iwakoshi M, Kosho T, Fukushima Y, Makita Y, Yokoyama Y, Yamagata T, Kato M, Hiraki Y, Nomura M, Yoshiura K-I, Kishino T, Ohta T, Mizuguchi T, Niikawa N, Matsumoto N. 2005. BAC array CGH reveals genomic aberrations in non-syndromic mental retardation. Am J Med Genet (this issue). Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. 1981. Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 99: 565–569. Schoumans J, Nordgren A, Ruivenkamp C, Brondum-Nielsen K, Teh BT, Anneren G, Holmberg E, Nordenskjold M, Anderlid BM. 2005. Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome. Eur J Hum Genet 13: 260–263. Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Maner S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M. 2004. Large-scale copy number polymorphism in the human genome. Science 305: 525–528. Citing Literature Volume140A, Issue31 February 2006Pages 291-293 ReferencesRelatedInformation
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