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On the reported 8p22‐p23.1 duplication in Kabuki make‐up syndrome (KMS) and its absence in patients with typical KMS

2004; Wiley; Volume: 128A; Issue: 2 Linguagem: Inglês

10.1002/ajmg.a.30137

1552-4833

Noriko Miyake, Naoki Harada, Osamu Shimokawa, Hirofumi Ohashi, Kenji Kurosawa, Tadashi Matsumoto, Yoshimitsu Fukushima, Toshiro Nagai, Vorasuk Shotelersuk, Ko‐ichiro Yoshiura, Tohru Ohta, Tatsuya Kishino, Norio Niikawa, Naomichi Matsumoto,

Genomic variations and chromosomal abnormalities

American Journal of Medical Genetics Part AVolume 128A, Issue 2 p. 170-172 Rapid Publication On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS 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, 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 authorOsamu Shimokawa, Osamu Shimokawa Kyushu Medical Science Nagasaki Laboratory, Nagasaki, JapanSearch for more papers by this authorHirofumi Ohashi, Hirofumi Ohashi Division of Medical Genetics, Saitama Children's Medical Center, Saitama, 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 authorTadashi Matsumoto, Tadashi Matsumoto Department of Nursing, Nagasaki University School of Health Sciences, Nagasaki, JapanSearch 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 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 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 authorTohru Ohta, Tohru Ohta 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 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 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] Department of Human Genetics, 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, JapanDepartment of Human Genetics, Yokohama 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, 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 authorOsamu Shimokawa, Osamu Shimokawa Kyushu Medical Science Nagasaki Laboratory, Nagasaki, JapanSearch for more papers by this authorHirofumi Ohashi, Hirofumi Ohashi Division of Medical Genetics, Saitama Children's Medical Center, Saitama, 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 authorTadashi Matsumoto, Tadashi Matsumoto Department of Nursing, Nagasaki University School of Health Sciences, Nagasaki, JapanSearch 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 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 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 authorTohru Ohta, Tohru Ohta 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 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 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] Department of Human Genetics, 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, JapanDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama 236-0004, Japan.Search for more papers by this author First published: 11 May 2004 https://doi.org/10.1002/ajmg.a.30137Citations: 26Read 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 No abstract is available for this article. REFERENCES 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 117C: 57–65. Milunsky JM, Huang XL. 2003. Unmasking Kabuki syndrome: chromosome 8p22-p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH. Clin Genet 64: 509–516. 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. Sugawara H, Harada N, Ida T, Ishida T, Ledbetter DH, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. 2003. Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23. Genomics 82: 238–244. Citing Literature Volume128A, Issue215 July 2004Pages 170-172 ReferencesRelatedInformation