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Sperm ultrastructure and 18, X, Y aneuploidies in a man with a 46 XY, 47 XY + 18 mosaic karyotype: case report

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Abstract

Purpose

To describe sperm morphology and meiotic segregation in the case of a man with a 46 XY/ 47 XY + 18 mosaic karyotype.

Materials and methods

A 25-year-old man came to our Centre for semen analysis. Morphological sperm evaluation was performed by light and electron microscopy; meiotic segregation was examined by fluorescence in situ hybridisation (FISH) technique using probes for chromosomes 18, X and Y. PCR was carried out on DNA from peripheral blood lymphocytes to analyze Y microdeletions.

Results

Mathematically elaborated transmission electron microscopy data highlighted a low number of sperm devoid of ultrastructural defects, and the presence of characteristics of apoptosis and immaturity. FISH showed the presence of aneuploidies of chromosome 18 and sex chromosomes.

Conclusions

In this case of mosaicism morphological and meiotic spermatogenetic impairment is shown, as well as structural chromosomal alterations.

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References

  1. Ramesh K, Verna R. Parental origin of the extra chromosome 18 in Edward syndrome. Ann Genet 1996;39:110–2.

    PubMed  CAS  Google Scholar 

  2. Edwards J, Cameron A, Crosse V, Harnden D, Wolff O. A new trisomic syndrome. Lancet 1960;i:787–90.

    Article  Google Scholar 

  3. Naguib KK, Al-Awadi SA, Moussa MA, Bastaki L, Gouda S, Redha MA, et al. Trisomy 18 in Kuwait. Int J Epidemiol 1999;28:711–6.

    Article  PubMed  CAS  Google Scholar 

  4. Okada H, Fujioka H, Tatsumi N, Kanzaki M, Okuda Y, Fujisawa M, et al. Klinefelter's syndrome in the male infertility clinic. Hum Reprod 1999;14:946–52.

    Article  PubMed  CAS  Google Scholar 

  5. Giltay JC, van Golde RJ, Kastrop PM. Analysis of spermatozoa from seven ICSI males with constitutional sex chromosomal abnormalities by fluorescent in situ hybridization. J Assist Reprod Genet 2000;17:151–5.

    Article  PubMed  CAS  Google Scholar 

  6. Zelante L, Dallapiccola B, Calvano S, Memeo E, Gasparini P, Simi P, et al. Two mosaic-YY males carrying asymmetric Y chromosomes. Clin Genet 1997;51:65–8.

    Article  PubMed  CAS  Google Scholar 

  7. Lim AS, Fong Y, Yu SL. Estimates of sperm sex chromosome disomy and diploidy rates in a 47,XXY/46,XY mosaic Klinefelter patient. Hum Genet 1999;104:405–9.

    Article  PubMed  CAS  Google Scholar 

  8. World Health Organization. WHO laboratory manual for the examination of human semen and semen-cervical mucus interaction. 4th ed. Cambridge: Cambridge University Press; 1999.

    Google Scholar 

  9. Baccetti B, Bernieri G, Burrini AG, Collodel G, Crisà N, Mirolli M, et al. Notulae seminologicae. 5. Mathematical evaluation of interdependent submicroscopic sperm alterations. J Androl 1995;16:356–71.

    PubMed  CAS  Google Scholar 

  10. Baccetti B, Bruni E, Capitani S, Collodel G, Mancini S, Piomboni P, et al. Studies on varicocele III: ultrastructural sperm evaluation and 18, X and Y aneuploidies. J Androl 2006;27:94–101.

    Article  PubMed  Google Scholar 

  11. Baccetti B, Strehler E, Capitani S, Collodel G, De Santo M, Moretti E, et al. The effect of follicle stimulating hormone therapy on human sperm structure (Notulae seminologicae 11). Hum Reprod 1997;12:1955–68.

    Article  PubMed  CAS  Google Scholar 

  12. Baccetti B, Bruni E, Collodel G, Gambera L, Moretti E, Marzella R, et al. 10, 15 reciprocal translocation in an infertile man: ultrastructural and fluorescence in-situ hybridization sperm study: case report. Hum Reprod 2003;18:2302–8.

    Article  PubMed  CAS  Google Scholar 

  13. Egozcue S, Blanco J, Vendrell JM, Garcia F, Veiga A, Aran B, et al. Human male infertility: chromosome anomalies, meiotic disorders, abnormal spermatozoa and recurrent abortion. Hum Reprod Update 2000;6:93–105.

    Article  PubMed  CAS  Google Scholar 

  14. Baccetti B, Collodel G, Marzella R, Moretti E, Piomboni P, Scapigliati G, et al. Ultrastructural studies of spermatozoa from infertile males with Robertsonian translocations and 18, X, Y aneuploidies. Hum Reprod 2005;20:2295–300.

    Article  PubMed  CAS  Google Scholar 

  15. Collodel G, Moretti E, Capitani S, Piomboni P, Anichini C, Estenoz M, et al. TEM, FISH and molecular studies in infertile men with pericentric inversion of chromosome 9. Andrologia 2006;38:122–7.

    Article  PubMed  CAS  Google Scholar 

  16. Ryu HM, Lin WW, Lamb DJ, Chuang W, Lipshultz LI, Bischoff FZ. Increased chromosome X, Y, and 18 nondisjunction in sperm from infertile patients that were identified as normal by strict morphology: implication for intracytoplasmic sperm injection. Fertil Steril 2001;76:879–83.

    Article  PubMed  CAS  Google Scholar 

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Acknowledgment

Research supported by COFIN 2005, Italy.

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Authors and Affiliations

  1. Department of General Surgery, Biology Section, Interdepartmental Centre for Research and Therapy of Male Infertility, University of Siena, Policlinico S. Maria alle Scotte, 53100, Siena, Italy

    G. Collodel, I. Cosci, A. N. Pascarelli & E. Moretti

Authors
  1. G. Collodel
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  2. I. Cosci
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  3. A. N. Pascarelli
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  4. E. Moretti
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Corresponding author

Correspondence to E. Moretti.

Additional information

We describe sperm morphology and meiotic segregation in a carrier of 46 XY/ 47 XY + 18 mosaic karyotype.

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Collodel, G., Cosci, I., Pascarelli, A.N. et al. Sperm ultrastructure and 18, X, Y aneuploidies in a man with a 46 XY, 47 XY + 18 mosaic karyotype: case report. J Assist Reprod Genet 24, 373–376 (2007). https://doi.org/10.1007/s10815-007-9133-x

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  • DOI: https://doi.org/10.1007/s10815-007-9133-x

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