Fertility and Sterility
Volume 94, Issue 7 , Pages 2874-2877 , December 2010

Aneuploidies in embryos and spermatozoa from patients with Y chromosome microdeletions

  • Emilia Mateu, Ph.D.

      Affiliations

    • Instituto Valenciano de Infertilidad, Valencia, Spain
    • Corresponding Author InformationReprint requests: Emilia Mateu, Ph.D., Instituto Universitario IVI, Pl. Policia Local 3, 46015 Valencia, Spain (FAX: 34-963-05-09-99).
    • ,
  • Lorena Rodrigo, B.Sc.

      Affiliations

    • Instituto Valenciano de Infertilidad, Valencia, Spain
    • ,
  • M. Carmen Martínez, B.Sc.

      Affiliations

    • Instituto Valenciano de Infertilidad, Murcia, Spain
    • ,
  • Vanessa Peinado, B.Sc.

      Affiliations

    • Instituto Valenciano de Infertilidad, Valencia, Spain
    • ,
  • Miguel Milán, Ph.D.

      Affiliations

    • Instituto Valenciano de Infertilidad, Valencia, Spain
    • ,
  • Manuel Gil-Salom, M.D.

      Affiliations

    • Instituto Valenciano de Infertilidad, Valencia, Spain
    • ,
  • Jose Maria Martínez-Jabaloyas, M.D.

      Affiliations

    • Instituto Valenciano de Infertilidad, Valencia, Spain
    • ,
  • José Remohí, M.D.

      Affiliations

    • Instituto Valenciano de Infertilidad, Valencia, Spain
    • ,
  • Antonio Pellicer, M.D.

      Affiliations

    • Instituto Valenciano de Infertilidad, Valencia, Spain
    • ,
  • Carmen Rubio, Ph.D.

      Affiliations

    • Instituto Valenciano de Infertilidad, Valencia, Spain

Received 11 February 2010 ,Revised 8 June 2010 ,Accepted 16 June 2010.

References 

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  2. Foresta C, Moro E, Ferlin A. Prognostic value of Y deletion analysis. The role of current methods. Hum Reprod. 2001;16:1543–1547
  3. 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
  4. Sun C, Skaletsky H, Birren B, Devon K, Tang Z, Silber S, et al. An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. Nat Genet. 1999;23:429–432
  5. Ma K, Sharkey A, Kirsch S, Vogt P, Keil R, Hargreave TB, et al. Towards the molecular localisation of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. Hum Mol Genet. 1992;1:29–33
  6. Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, et al. Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet. 1995;10:383–393
  7. 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
  8. Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet. 1976;34:119–124
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  10. Pryor JL, Kent-First M, Muallem A, Van Bergen AH, Nolten WE, Meisner L, et al. Microdeletions in the Y chromosome of infertile men. N Engl J Med. 1997;336:534–539
  11. Chang PL, Sauer MV, Brown S. Y chromosome microdeletion in a father and his four infertile sons. Hum Reprod. 1999;14:2689–2694
  12. Kleiman SE, Yogev L, Gamzu R, Hauser R, Botchan A, Paz G, et al. Three-generation evaluation of Y-chromosome microdeletion. J Androl. 1999;20:394–398
  13. Saut N, Terriou P, Navarro A, Levy N, Mitchell MJ. The human Y chromosome genes BPY2, CDY1 and DAZ are not essential for sustained fertility. Mol Hum Reprod. 2000;6:789–793
  14. Gatta V, Stuppia L, Calabrese G, Morizio E, Guanciali-Franchi P, Palka G. A new case of Yq microdeletion transmitted from a normal father to two infertile sons. J Med Genet. 2002;39:E27
  15. Rolf C, Gromoll J, Simoni M, Nieschlag E. Natural transmission of a partial AZFb deletion of the Y chromosome over three generations: case report. Hum Reprod. 2002;17:2267–2271
  16. Kuhnert B, Gromoll J, Kostova E, Tschanter P, Luetjens CM, Simoni M, et al. Case report: natural transmission of an AZFc Y-chromosomal microdeletion from father to his sons. Hum Reprod. 2004;19:886–888
  17. van Golde RJ, Wetzels AM, de Graaf R, Tuerlings JH, Braat DD, Kremer JA. Decreased fertilization rate and embryo quality after ICSI in oligozoospermic men with microdeletions in the azoospermia factor c region of the Y chromosome. Hum Reprod. 2001;16:289–292
  18. Kihaile PE, Kisanga RE, Aoki K, Kumasako Y, Misumi J, Utsunomiya T. Embryo outcome in Y-chromosome microdeleted infertile males after ICSI. Mol Reprod Dev. 2004;68:176–181
  19. Siffroi JP, Le Bourhis C, Krausz C, Barbaux S, Quintana-Murci L, Kanafani S, et al. Sex chromosome mosaicism in males carrying Y chromosome long arm deletions. Hum Reprod. 2000;15:2559–2562
  20. Perrin J, Metzler-Guillemain C, Karsenty G, Grillo JM, Mitchell MJ, Guichaoua MR. Meiotic arrest at the midpachytene stage in a patient with complete azoospermia factor b deletion of the Y chromosome. Fertil Steril. 2006;85:494.e5–8
  21. Geoffroy-Siraudin C, Aknin-Seiffer I, Metzler-Guillemain C, Ghalamoun-Slaimi R, Bonzi MF, Levy R, et al. Meiotic abnormalities in patients bearing complete AZFc deletion of Y chromosome. Hum Reprod. 2007;22:1567–1572
  22. Yogev L, Segal S, Zeharia E, Gamzu R, Maymon BB, Paz G, et al. Sex chromosome alignment at meiosis of azoospermic men with azoospermia factor microdeletion. J Androl. 2004;25:110–116
  23. Rodrigo L, Peinado V, Mateu E, Remohi J, Pellicer A, Simon C, et al. Impact of different patterns of sperm chromosomal abnormalities on the chromosomal constitution of preimplantation embryos. Fertil Steril 2009 Jul 14. [Epub ahead of print.]
  24. Papadimas J, Goulis DG, Giannouli C, Papanicolaou A, Tarlatzis B, Bontis JN. Ambiguous genitalia, 45, X/46, XY mosaic karyotype, and Y chromosome microdeletions in a 17-year-old man. Fertil Steril. 2001;76:1261–1263
  25. Patsalis PC, Sismani C, Quintana-Murci L, Taleb-Bekkouche F, Krausz C, McElreavey K. Effects of transmission of Y chromosome AZFc deletions. Lancet. 2002;360:1222–1224
  26. Alvarez-Nava F, Puerta H, Soto M, Pineda L, Temponi A. High incidence of Y-chromosome microdeletions in gonadal tissues from patients with 45, X/46, XY gonadal dysgenesis. Fertil Steril. 2008;89:458–460
  27. Mulhall JP, Reijo R, Alagappan R, Brown L, Page D, Carson R, et al. Azoospermic men with deletion of the DAZ gene cluster are capable of completing spermatogenesis: fertilization, normal embryonic development and pregnancy occur when retrieved testicular spermatozoa are used for intracytoplasmic sperm injection. Hum Reprod. 1997;12:503–508
  28. Choi JM, Chung P, Veeck L, Mielnik A, Palermo GD, Schlegel PN. AZF microdeletions of the Y chromosome and in vitro fertilization outcome. Fertil Steril. 2004;81:337–341
  29. Oates RD, Silber S, Brown LG, Page DC. Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI. Hum Reprod. 2002;17:2813–2824
  30. Stouffs K, Lissens W, Tournaye H, Van Steirteghem A, Liebaers I. The choice and outcome of the fertility treatment of 38 couples in whom the male partner has a Yq microdeletion. Hum Reprod. 2005;20:1887–1896

 E.M. has nothing to disclose. L.R. has nothing to disclose. M.C.M. has nothing to disclose. V.P. has nothing to disclose. M.M. has nothing to disclose. M.G-S. has nothing to disclose. J.M.M-J. has nothing to disclose. J.R. has nothing to disclose. A.P. has nothing to disclose. C.R. has nothing to disclose.

PII: S0015-0282(10)00999-4

doi: 10.1016/j.fertnstert.2010.06.046

Fertility and Sterility
Volume 94, Issue 7 , Pages 2874-2877 , December 2010

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