A de novo direct duplication of 16q22.1 → q23.1 in a boy with midface hypoplasia and mental retardation
2009; Wiley; Volume: 149A; Issue: 11 Linguagem: Inglês
10.1002/ajmg.a.33049
ISSN1552-4833
AutoresTomoharu Tokutomi, Takahito Wada, Eiji Nakagawa, Shinji Saitoh, Masayuki Sasaki,
Tópico(s)Genetics and Neurodevelopmental Disorders
ResumoAmerican Journal of Medical Genetics Part AVolume 149A, Issue 11 p. 2560-2563 Research Letter A de novo direct duplication of 16q22.1 → q23.1 in a boy with midface hypoplasia and mental retardation† Tomoharu Tokutomi, Corresponding Author Tomoharu Tokutomi [email protected] Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo, Japan Department of Pathology and Laboratory Medicine, National Defense Medical College, Tokorozawa, Saitama, JapanDepartment of Pathology and Laboratory Medicine, National Defense Medical College, 3-2 Namiki, Tokorozawa, Saitama 359-8513, Japan.Search for more papers by this authorTakahito Wada, Takahito Wada Department of Preventive Medicine and Public Health, Shinshu University School of Medicine, Matsumoto, Nagano, Japan Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Nagano, JapanSearch for more papers by this authorEiji Nakagawa, Eiji Nakagawa Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo, JapanSearch for more papers by this authorShinji Saitoh, Shinji Saitoh Department of Pediatrics, Graduate School of Medicine, Hokkaido University School of Medicine, Sapporo, Hokkaido, JapanSearch for more papers by this authorMasayuki Sasaki, Masayuki Sasaki Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo, JapanSearch for more papers by this author Tomoharu Tokutomi, Corresponding Author Tomoharu Tokutomi [email protected] Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo, Japan Department of Pathology and Laboratory Medicine, National Defense Medical College, Tokorozawa, Saitama, JapanDepartment of Pathology and Laboratory Medicine, National Defense Medical College, 3-2 Namiki, Tokorozawa, Saitama 359-8513, Japan.Search for more papers by this authorTakahito Wada, Takahito Wada Department of Preventive Medicine and Public Health, Shinshu University School of Medicine, Matsumoto, Nagano, Japan Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Nagano, JapanSearch for more papers by this authorEiji Nakagawa, Eiji Nakagawa Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo, JapanSearch for more papers by this authorShinji Saitoh, Shinji Saitoh Department of Pediatrics, Graduate School of Medicine, Hokkaido University School of Medicine, Sapporo, Hokkaido, JapanSearch for more papers by this authorMasayuki Sasaki, Masayuki Sasaki Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo, JapanSearch for more papers by this author First published: 28 October 2009 https://doi.org/10.1002/ajmg.a.33049Citations: 8 † How to cite this article: Tokutomi T, Wada T, Nakagawa E, Saitoh S, Sasaki M. 2009. A de novo direct duplication of 16q22.1 → q23.1 in a boy with midface hypoplasia and mental retardation. Am J Med Genet Part A 149A:2560–2563. Read 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 Citing Literature Volume149A, Issue11November 2009Pages 2560-2563 RelatedInformation
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