Title: Transverse limb defect in a patient with Jacobsen syndrome: Concurrence of malformation and disruption
Abstract: American Journal of Medical Genetics Part AVolume 152A, Issue 4 p. 1033-1035 Research Letter Transverse limb defect in a patient with Jacobsen syndrome: Concurrence of malformation and disruption† Hideki Fujita, Hideki Fujita Division of Clinical Genetics and Molecular Medicine, National Center for Child Health and Development, Tokyo, Japan Department of Pediatrics, Keio University School of Medicine, Tokyo, JapanSearch for more papers by this authorTadahiro Yanagi, Tadahiro Yanagi Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan Department of Pediatrics, Yokosuka Kyosai Hospital, Yokosuka, JapanSearch for more papers by this authorRika Kosaki, Rika Kosaki Division of Clinical Genetics and Molecular Medicine, National Center for Child Health and Development, Tokyo, Japan Department of Pediatrics, Keio University School of Medicine, Tokyo, JapanSearch for more papers by this authorChiharu Torii, Chiharu Torii Department of Pediatrics, Keio University School of Medicine, Tokyo, JapanSearch for more papers by this authorMasahiro Bamba, Masahiro Bamba Department of Pediatrics, Yokosuka Kyosai Hospital, Yokosuka, JapanSearch for more papers by this authorTakao Takahashi, Takao Takahashi Department of Pediatrics, Keio University School of Medicine, Tokyo, JapanSearch for more papers by this authorKenjiro Kosaki, Corresponding Author Kenjiro Kosaki [email protected] Department of Pediatrics, Keio University School of Medicine, Tokyo, JapanDepartment of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan.Search for more papers by this author Hideki Fujita, Hideki Fujita Division of Clinical Genetics and Molecular Medicine, National Center for Child Health and Development, Tokyo, Japan Department of Pediatrics, Keio University School of Medicine, Tokyo, JapanSearch for more papers by this authorTadahiro Yanagi, Tadahiro Yanagi Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan Department of Pediatrics, Yokosuka Kyosai Hospital, Yokosuka, JapanSearch for more papers by this authorRika Kosaki, Rika Kosaki Division of Clinical Genetics and Molecular Medicine, National Center for Child Health and Development, Tokyo, Japan Department of Pediatrics, Keio University School of Medicine, Tokyo, JapanSearch for more papers by this authorChiharu Torii, Chiharu Torii Department of Pediatrics, Keio University School of Medicine, Tokyo, JapanSearch for more papers by this authorMasahiro Bamba, Masahiro Bamba Department of Pediatrics, Yokosuka Kyosai Hospital, Yokosuka, JapanSearch for more papers by this authorTakao Takahashi, Takao Takahashi Department of Pediatrics, Keio University School of Medicine, Tokyo, JapanSearch for more papers by this authorKenjiro Kosaki, Corresponding Author Kenjiro Kosaki [email protected] Department of Pediatrics, Keio University School of Medicine, Tokyo, JapanDepartment of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan.Search for more papers by this author First published: 26 March 2010 https://doi.org/10.1002/ajmg.a.33151Citations: 8 † How to cite this article: Fujita H, Yanagi T, Kosaki R, Torii C, Bamba M, Takahashi T, Kosaki K. 2010. Transverse limb defect in a patient with Jacobsen syndrome: Concurrence of malformation and disruption. Am J Med Genet Part A 152A:1033–1035. 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 REFERENCES Al-Sanna'a N, Adatia I, Teebi AS. 2000. Transverse limb defects associated with aorto-pulmonary vascular abnormalities: Vascular disruption sequence or atypical presentation of Adams-Oliver syndrome? Am J Med Genet 94: 400– 404. Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, Jones C. 2004. 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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30: e57. Spranger J, Benirschke K, Hall JG, Lenz W, Lowry RB, Opitz JM, Pinsky L, Schwarzacher HG, Smith DW. 1982. Errors of morphogenesis: Concepts and terms. Recommendations of an international working group. J Pediatr 100: 160– 165. Van den Hof MC, Nicolaides KH. 1990. Platelet count in normal, small, and anemic fetuses. Am J Obstet Gynecol 162: 735– 739. von Bubnoff D, Kreiss-Nachtsheim M, Novak N, Engels E, Engels H, Behrend C, Propping P, de la Salle H, Bieber T. 2004. Primary immunodeficiency in combination with transverse upper limb defect and anal atresia in a 34-year-old patient with Jacobsen syndrome. Am J Med Genet Part A 126A: 293– 298. Citing Literature Volume152A, Issue4April 2010Pages 1033-1035 ReferencesRelatedInformation
Publication Year: 2010
Publication Date: 2010-03-26
Language: en
Type: letter
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 9
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