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 ,Revised 11 December 2009 ,Accepted 14 December 2009.

References 

  1. Sybert VP, McCauley E. Turner's syndrome. N Engl J Med. 2004;351:1227–1238
  2. Gravolt CH. Clinical practice in Turner syndrome. Nat Clin Pract Endocrinol Metab. 2005;1:41–52
  3. Van den Berghe H, Fryns JP, Devos F. 46, XXip karyotype in a woman with normal stature and gonadal dysgenesis without other congenital anomalies. Humangenetik. 1973;20:163–166
  4. Fitzgerald PH, Donald RA. Isochromosome for the short arm of X: a human mosaic 45, X/46, XXpi. Clin Genet. 1975;7:148–154
  5. Keogh EJ, De Kretser DM, Fitzgerald MG. Isochromosome for the short arm of X with primary amenorrhoea and a pituitary tumour. Aust N Z J Med. 1973;3:617–619
  6. Höckner M, Erdel M, Spreiz A, Utermann G, Kotzot D. Whole genome amplification from microdissected chromosomes. Cytogenet Genome Res. 2009;125:98–102
  7. Hassold T, Hunt P. To err (meiotically) is human: the genesis of human aneuploidy. Nat Rev Genet. 2001;2:280–291
  8. Uematsu A, Yorifuji T, Muroi J, Kawai M, Mamada M, Kaji M, et al. Parental origin of normal X chromosomes in Turner syndrome patients with various karyotypes: implications for the mechanism leading to generation of a 45, X karyotype. Am J Med Genet. 2002;111:134–139
  9. James RS, Dalton P, Gustashaw K, Wolff DJ, Willard HF, Mitchell C, et al. Molecular characterization of isochromosome Xq. Ann Hum Genet. 1997;61:485–490
  10. Lorda-Sanchez I, Binkert F, Maechler M, Schinzel A. A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formation. Am J Hum Genet. 1991;49:1034–1040
  11. Giglio S, Pirola B, Arrigo G, Dagrada P, Bardoni B, Bernardi F, et al. Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements. Eur J Hum Genet. 2000;8:63–70
  12. Eggermann T, Schubert R, Engels H, Apacik C, Stengel-Rutkowski S, Haefliger C, et al. Formation of supernumerary euchromatic short arm isochromosomes: parent and cell stage of origin in new cases and review of the literature. Ann Genet. 1999;42:75–80
  13. De la Chapelle A, Schröder J, Pernu M. Isochromosome for the short arm of X, a human 46, XXpi syndrome. Ann Hum Genet. 1972;36:79–87
  14. Barnes IC, Curtis D, Duncan SL. A duplication/deficient X chromosome in a girl with mental retardation and dysmorphic features. J Med Genet. 1988;25:264–267
  15. Nikolis J, Stolevic E. Recombinant chromosome as a result of pericentric inversion of X chromosome. Hum Genet. 1978;45:115–122
  16. Letterie GS. Unique unbalanced X;X translocation (Xq22;p11.2) in a woman with primary amenorrhea but without Ullrich-Turner syndrome. Am J Med Genet. 1995;59:414–416

 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

Article Tools

* Image Usage & Resolution