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Prepublished online as a Blood First Edition Paper on June 21, 2002; DOI 10.1182/blood-2002-01-0277. This Article Full Text Full Text (PDF) All Versions of this Article: 2002-01-0277v1 100/8/3034    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Valleix, S. Articles by Negrier, C. Search for Related Content PubMed PubMed Citation Articles by Valleix, S. Articles by Negrier, C. Related Collections Hemostasis, Thrombosis, and Vascular Biology Brief Reports Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, 15 October 2002, Vol. 100, No. 8, pp. 3034-3036 BRIEF REPORT Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A Sophie Valleix, Christine Vinciguerra, Jean-Maurice Lavergne, Marco Leuer, Marc Delpech, and Claude Negrier From the Faculte Cochin-Port Royal, Laboratoire de Biochimie et Genetique Moleculaire, Paris, France; the Hopital Edouard Herriot, Centre de Traitement de l'Hemophilie, Laboratoire d'Hemostase, Inserm U331, Lyon, France; the Hopital de Bicetre, Laboratoire d'Hemostase et Thrombose, Inserm U143, Le Kremlin Bicetre, France; the University of Bonn, Department of Clinical Biochemistry, Germany; and Biopsytec Analytik GmbH, Rheinbach, Germany. This study describes the genetic mechanisms responsible for the de novo occurrence of severe and mild hemophilia A in monozygotic twin females. Both twins were found to carry a previously known factor VIII mutation (Tyr16Cys) in the heterozygous state which most probably arose in the paternal germ line. Both twins showed concordant skewing of X inactivation toward the maternally derived normal X chromosome, the most severely affected twin exhibiting a higher percentage of inactivation of the normal X chromosome. The degree of skewing of X inactivation closely correlated with both the coagulation parameters and the clinical phenotype of the twins. Since these twins were monochorionic, such results suggest that the twinning event in this case has occurred after the onset of the X-inactivation period. © 2002 by The American Society of Hematology.   CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: T. E. Hickey, R. S. Legro, and R. J. Norman Epigenetic Modification of the X Chromosome Influences Susceptibility to Polycystic Ovary Syndrome J. Clin. Endocrinol. Metab., July 1, 2006; 91(7): 2789 - 2791. [Abstract] [Full Text] [PDF] P. Dhar, S. Abramovitz, D. DiMichele, C. B. Gibb, and F. Gadalla Management of pregnancy in a patient with severe haemophilia A Br. J. Anaesth., September 1, 2003; 91(3): 432 - 435. [Abstract] [Full Text] [PDF]

	Copyright © 2002 by American Society of Hematology         Online ISSN: 1528-0020