Fertility and Sterility
Volume 90, Issue 6 , Pages 2328-2333 , December 2008

Sex chromosome characteristics and recurrent miscarriage

  • Milja Kaare, M.Sc.

      Affiliations

    • Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
    • Corresponding Author InformationReprint requests: Milja Kaare, M.Sc., Folkhälsan Institute of Genetics, Biomedicum Helsinki, P.O. Box 63, University of Helsinki, FIN-00014, Helsinki, Finland (FAX: +358 919125073).
    • ,
  • Jodie N. Painter, Ph.D.

      Affiliations

    • Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
    • ,
  • Veli-Matti Ulander, M.D., Ph.D.

      Affiliations

    • Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland
    • ,
  • Risto Kaaja, M.D., Ph.D.

      Affiliations

    • Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland
    • ,
  • Kristiina Aittomäki, M.D., Ph.D.

      Affiliations

    • Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland
    • Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland

Received 18 June 2007 ,Revised 26 October 2007 ,Accepted 26 October 2007.

References 

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  2. Rai R, Regan L. Recurrent miscarriage. Lancet. 2006;368:601–611
  3. Lanasa MC, Hogge WA, Kubik C, Blancato J, Hoffman EP. Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortion. Am J Hum Genet. 1999;65:252–254
  4. Bagislar S, Ustuner I, Cengiz B, Soylemez F, Akyerli CB, Ceylaner S, et al. Extremely skewed X-chromosome inactivation patterns in women with recurrent spontaneous abortion. Aust N Z J Obstet Gynaecol. 2006;46:384–387
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  11. Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, et al. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet. 1996;5:933–943
  12. Hopps CV, Mielnik A, Goldstein M, Palermo GD, Rosenwaks Z, Schlegel PN. Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions. Hum Reprod. 2003;18:1660–1665
  13. Ferlin A, Arredi B, Speltra E, Cazzadore C, Selice R, Garolla A, et al. Molecular and clinical characterization of y chromosome microdeletions in infertile men: a 10-year experience in Italy. J Clin Endocrinol Metab. 2007;92:762–770
  14. Noordam MJ, Repping S. The human Y chromosome: a masculine chromosome. Curr Opin Genet Dev. 2006;16:225–232
  15. Foresta C, Garolla A, Bartoloni L, Bettella A, Ferlin A. Genetic abnormalities among severely oligospermic men who are candidates for intracytoplasmic sperm injection. J Clin Endocrinol Metab. 2005;90:152–156
  16. Rubio C, Simon C, Blanco J, Vidal F, Minguez Y, Egozcue J, et al. Implications of sperm chromosome abnormalities in recurrent miscarriage. J Assist Reprod Genet. 1999;16:253–258
  17. Al-Hassan S, Hellani A, Al-Shahrani A, Al-Deery M, Jaroudi K, Coskun S. Sperm chromosomal abnormalities in patients with unexplained recurrent abortions. Arch Androl. 2005;51:69–76
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  19. Iitsuka Y, Bock A, Nguyen DD, Samango-Sprouse CA, Simpson JL, Bischoff FZ. Evidence of skewed X-chromosome inactivation in 47,XXY and 48,XXYY Klinefelter patients. Am J Med Genet. 2001;98:25–31
  20. Sharp A, Robinson D, Jacobs P. Age- and tissue-specific variation of X chromosome inactivation ratios in normal women. Hum Genet. 2000;107:343–349
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  22. Sullivan AE, Lewis T, Stephenson M, Odem R, Schreiber J, Ober C, et al. Pregnancy outcome in recurrent miscarriage patients with skewed X chromosome inactivation. Obstet Gynecol. 2003;101:1236–1242
  23. Kim JW, Park SY, Kim YM, Kim JM, Han JY, Ryu HM. X-chromosome inactivation patterns in Korean women with idiopathic recurrent spontaneous abortion. J Korean Med Sci. 2004;19:258–262
  24. Lyon MF. Possible mechanisms of X chromosome inactivation. Nat New Biol. 1971;232:229–232
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  26. Gale RE, Fielding AK, Harrison CN, Linch DC. Acquired skewing of X-chromosome inactivation patterns in myeloid cells of the elderly suggests stochastic clonal loss with age. Br J Haematol. 1997;98:512–519
  27. Krausz C, McElreavey K. Y chromosome and male infertility. Front Biosci. 1999;15:E1–E8
  28. Arredi B, Ferlin A, Speltra E, Bedin C, Zuccarello D, Ganz F, et al. Y-chromosome haplogroups and susceptibility to azoospermia factor c microdeletion in an Italian population. J Med Genet. 2007;44:205–208
  29. Noordam MJ, van der Veen F, Repping S. Techniques and reasons to remain interested in the Y chromosome. Fertil Steril. 2006;86:1801–1802
  30. Simoni M, Bakker E, Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. Int J Androl. 2004;27:240–249

 Supported by the Finnish State Grant, Helsinki, Finland, and the Sigrig Juselius Foundation, Helsinki, Finland.

PII: S0015-0282(07)03931-3

doi: 10.1016/j.fertnstert.2007.10.048

Fertility and Sterility
Volume 90, Issue 6 , Pages 2328-2333 , December 2008

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