Fertility and Sterility
Volume 94, Issue 1 , Pages 350.e12-350.e15, June 2010

Parental origin and mechanism of formation of a 46,X,der(X)(pter→q21.1::p11.4→pter)/45,X karyotype in a woman with mild Turner syndrome

  • Franz Binkert, Ph.D.

      Affiliations

    • MCL Medical Laboratories, Bern, Switzerland
    • ,
  • Ana Spreiz, Mag.

      Affiliations

    • Division of Clinical Genetics, Department of Medical Genetics and Molecular and Clinical Pharmacology, Medical University Innsbruck, Innsbruck, Austria
    • ,
  • Martina Höckner, Ph.D.

      Affiliations

    • Division of Clinical Genetics, Department of Medical Genetics and Molecular and Clinical Pharmacology, Medical University Innsbruck, Innsbruck, Austria
    • ,
  • Peter Miny, M.D.

      Affiliations

    • Division of Medical Genetics, University Children's Hospital, Basel, Switzerland
    • ,
  • Brigitte von Dach Leu, M.D.

      Affiliations

    • Private Practice for Obstetrics and Gynecology, Bern, Switzerland
    • ,
  • Martin Erdel, Ph.D.

      Affiliations

    • Division of Clinical Genetics, Department of Medical Genetics and Molecular and Clinical Pharmacology, Medical University Innsbruck, Innsbruck, Austria
    • ,
  • Johannes Zschocke, M.D., Ph.D.

      Affiliations

    • Division of Clinical Genetics, Department of Medical Genetics and Molecular and Clinical Pharmacology, Medical University Innsbruck, Innsbruck, Austria
    • ,
  • Gerd Utermann, M.D.

      Affiliations

    • Division of Clinical Genetics, Department of Medical Genetics and Molecular and Clinical Pharmacology, Medical University Innsbruck, Innsbruck, Austria
    • ,
  • Dieter Kotzot, M.D.

      Affiliations

    • Division of Clinical Genetics, Department of Medical Genetics and Molecular and Clinical Pharmacology, Medical University Innsbruck, Innsbruck, Austria
    • Corresponding Author InformationReprint requests: Dr. Med. D. Kotzot, Division of Clinical Genetics, Department of Medical Genetics and Molecular and Clinical Pharmacology, Schoepfstr. 41, A-6020 Innsbruck, Austria (FAX: 0043/512/9003-73510).

Received 3 October 2009; received in revised form 11 December 2009; accepted 14 December 2009. published online 01 February 2010.

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 F.B. has nothing to disclose. A.S. has nothing to disclose. M.H. has nothing to disclose. P.M. has nothing to disclose. B.v.D.L. has nothing to disclose. M.E. has nothing to disclose. J.Z. has nothing to disclose. G.U. has nothing to disclose. D.K. has nothing to disclose.

 The first two authors contributed equally to this work.

 Supported by grants from the Österreichische Nationalbank to M.E. (no 12530) and D.K. (no 13004).

PII: S0015-0282(09)04226-5

doi:10.1016/j.fertnstert.2009.12.040

Fertility and Sterility
Volume 94, Issue 1 , Pages 350.e12-350.e15, June 2010

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