Skip to main content
SpringerLink
Log in
Book cover

The Principles of Clinical Cytogenetics pp 247–265Cite as

Cytogenetics of Infertility

  • Chapter

  • 1524 Accesses

Abstract

The World Health Organization has described infertility as a health problem of global concern. One in seven couples experiences infertility or subfertility (1). Infertility is commonly defined as absence of a pregnancy after a year of unprotected intercourse. For information about cytogenetic aspects of spontaneous abortions, please refer to Chapter 13. Male factor and female factor infertility each account for about 40% of cases of infertility, and the remaining 20% is a combination (2). In this chapter, an overview of known causes of infertility will be presented so that the cytogenetic component’s relative contribution can be placed into context.

This is a preview of subscription content, log in via an institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   159.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Greenhall, E. and Vessey, M. (1990) The prevalence of subfertility: our view of the current confusion and a report of two new studies. Fertil. Steril. 54, 978–983.

    CAS  PubMed  Google Scholar 

  2. Speroff L. (1999) Women’s healthcare in the 21st century. Maturitas 32,1–9.

    Article  CAS  PubMed  Google Scholar 

  3. Saenger, P. (1996) Turner’s syndrome. N. Engl. J. Med. 335, 1749–1754.

    Article  CAS  PubMed  Google Scholar 

  4. Layman, L.C. (2002) The genetic basis of female infertility. In Principles and Practice of Medical Genetics, 4th ed. (Rimoin, D.L., Connor, J.M., Pyeritz, R.E., and Korf, B.R., eds.), Churchill Livingstone, New York, pp. 947–960.

    Google Scholar 

  5. Kaneko, N., Kawagoe, S., and Hiroi, M. (1990) Turner’s syndrome—review of the literature with reference to a successful pregnancy outcome. Gynecol. Obstet. Invest. 29, 81–86.

    Article  CAS  PubMed  Google Scholar 

  6. Magee, A.C., Nevin, N.C., Armstrong, M.J., McGibbon, D., and Nevin, J. (1998) Ullrich-Turner syndrome: seven pregnancies in an apparent 45,X woman. Am. J. Med. Genet. 75, 1–3.

    Article  CAS  PubMed  Google Scholar 

  7. Kocova, M., Siegel, S.F., Wenger, S.L., Lee, P.A., and Trucco, M. (1993) Detection of Y chromosome sequences in Turner’s syndrome by Southern blot analysis of amplified DNA. Lancet 342, 140–143.

    Article  CAS  PubMed  Google Scholar 

  8. Davison, R.M., Quilter, C.R., Webb, J., et al. (1998). A familial case of X chromosome deletion ascertained by cytogenetic screening of women with premature ovarian failure. Hum. Reprod. 13(11), 3039–3041.

    Article  CAS  PubMed  Google Scholar 

  9. Simpson, J.L. and Rajkovic, A (2000) Ovarian differentiation and gonadal failure. Am. J. Med. Genet. 89(4), 186–200.

    Article  Google Scholar 

  10. Online Mendelian Inheritance in Man 131200 (http://www.ncbi.nlm.nih/gov/entrez/query.fcgi?db=omim).

  11. Gogusev, J., Bouquet de Joliniere, J., Telvi, L., et al. (1999) Detection of DNA copy number changes in human endometriosis by comparitive genomic hybridization. Hum. Genet. 105(5), 444–451.

    Article  CAS  PubMed  Google Scholar 

  12. Rowe, P.J., Comhaire, F.H., Hargreave, T.B., and Mellows, H.J. (1993) WHO Manual for the Standardized Investigation and Diagnosis of the Infertile Couple. Cambridge University Press, New York.

    Google Scholar 

  13. March, M.R. and Isidori, A. (2002) New frontiers in the treatment of male sterility. Contraception 65(4), 279–281.

    Article  Google Scholar 

  14. Lissens, W., Liebaers, I. and Van Steirteghem, A. (2002) Male infertility. In Principles and Practice of Medical Genetics, 4th ed. (Rimoin, D.L., Connor, J.M., Pyeritz, R.E., and Korf, B.R., eds.), Churchill Livingstone, New York, pp. 961–981.

    Google Scholar 

  15. Chandley, A.C. (1998) Chromosome anomalies and Y chromosome microdeletions as causal factors in male infertility. Hum. Reprod. 13(Suppl. 1), 45–50.

    Article  CAS  PubMed  Google Scholar 

  16. Hackstein, J.H., Hochstenbach, R., and Pearson, P.L. (2000) Towards an understanding of the genetics of human male infertility: lessons from flies. Trends Genet. 16, 565–572.

    Article  CAS  PubMed  Google Scholar 

  17. Bor, P., Hindkjaer, J., Kolvraa, S., and Ingerslev, H.J. (2002) Y-chromosome microdeletions and cytogenetic findings in unselected ICSI candidates at a Danish fertility clinic. J. Assist. Reprod. Genet. 19, 224–231.

    Article  PubMed Central  PubMed  Google Scholar 

  18. Bonde, J.P.E., Ernst, E., Jensen, T.K., et al. (1998) Relation between semen quality and fertility: a population-based study of 430 first-pregnancy planners. Lancet 352, 1172–1177.

    Article  CAS  PubMed  Google Scholar 

  19. Gunduz, G., Luleci, G., and Bayukara, M. (1998) Cytogenetic study in 102 infertile men. Urol. Int. 61, 32–34.

    Article  CAS  PubMed  Google Scholar 

  20. Van Assche, E., Bonduelle, M., Tournaye, H., et al. (1996) Cytogenetics of infertile men. Hum. Reprod. 4(Suppl. 4), 1–26.

    Article  Google Scholar 

  21. Yoshida, A., Miura, K., and Shirai, M. (1997) Cytogenetic survey of 1,007 infertile males. Urol. Int. 58, 166–176.

    Article  CAS  PubMed  Google Scholar 

  22. Allanson, J.E. and Graham, G.E. (2002) Sex chromosome abnormalities. In Principles and Practice of Medical Genetics, 4th ed. (Rimoin, D.L., Connor, J.M., Pyeritz, R.E., and Korf, B.R., eds.), Churchill Livingstone, New York, pp. 1184–1201.

    Google Scholar 

  23. Johnson, M.D. (1998) Genetic risks of intracytoplasmic sperm injection in the treatment of male infertility: recommendations for genetic counseling and screening. Fertil. Steril. 70, 397–411.

    Article  CAS  PubMed  Google Scholar 

  24. Johannisson R., Schwinger E., Wolff, H.H., vom Ende, V., and Lohrs, U. (1993) The effect of 13;14 translocation on germ-cell differentiation in infertile males. Cytogenet. Cell Genet. 63, 151–155.

    Article  CAS  PubMed  Google Scholar 

  25. Zuffardi, O. and Tiepolo, L. (1982) Frequencies and types of chromosome abnormalities associated with human male infertility. In Serano Clinical Cologuia on Reproduction. III. Genetic Control of Gamete Production and Function (Crosignani, P.G. and Rubin, B.L., eds.) Academic/Grune & Stratton, London, pp. 261–273.

    Google Scholar 

  26. De Braekeleer, M. and Dao, T-N. (1991) Cytogenetic studies in male infertility: a review. Hum. Reprod. 6, 245–250.

    PubMed  Google Scholar 

  27. Tiepolo, L. and Zuffardi, O. (1976) Localization of factors controlling spermatogenesis in the nonfluorescent position of the human Y chromosome long arm. Hum.Genet. 34, 119–134.

    Article  CAS  PubMed  Google Scholar 

  28. Kent-First, M.G., Kol, S., Muallem, A., et al. (1996) The incidence and possible relevance of Y-linked microdeletions in babies born after intracytoplasmic sperm injection and their infertile fathers. Mol. Hum. Reprod. 2, 943–950.

    Article  CAS  PubMed  Google Scholar 

  29. Vogt, P.H., Edelmann, A., Kirsch, S., et al. (1996) Human Y chromosome azoospermia factors (AZF) mapped to subregions in Yq11. Hum. Mol. Genet. 5, 933–943.

    Article  CAS  PubMed  Google Scholar 

  30. Le Bourhis, C., Siffroi, J.P., McElreavey, K., and Dadoune, J P. (2000) Y chromosome microdeletions and germinal mosaicism in infertile males. Mol. Hum. Reprod. 6, 688–693.

    Article  PubMed  Google Scholar 

  31. Krausz, C., Quintana-Murci, L., Barbaux, S., et al. (1999) A high frequency of Y chromosome deletions in males with nonidiopathic infertility. J. Clin. Endocrinol. Metab. 84, 3606–3612.

    CAS  PubMed  Google Scholar 

  32. Ma, K., Inglis, K.J.D., Sharkey, A., et al. (1993) A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 75, 1287–1295.

    Article  CAS  PubMed  Google Scholar 

  33. Reijo, R., Lee, T.-Y., Salo, P.et al. (1995) Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nature Genet. 10, 383–393.

    Article  CAS  PubMed  Google Scholar 

  34. Weighardt, F., Biamonti, G., and Riva, S. (1996) The roles of heterogeneous nuclear ribonucleoproteins (hnRNP) in RNA metabolism. Bioessays 18, 747–756.

    Article  CAS  PubMed  Google Scholar 

  35. Elliott, D.J., Millar, M.R., Oghene, K., et al. (1997) Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm. Proc. Natl. Acad. Sci. USA 94, 3848–3853.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  36. Delbridge, M.L., Lingenfelter, P.A., Disteche, C.M., and Graves, J.A. (1999) The candidate spermatogenesis gene RBMY has a homologue on the human X chromosome. Nature Genet. 22, 223–224.

    Article  CAS  PubMed  Google Scholar 

  37. Saxena, R., Brown, L.G., Hawkins, T., et al. (1996) The DAX gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. Nature Genet. 14, 292–299.

    Article  CAS  PubMed  Google Scholar 

  38. Menke, D.B., Mutter, G.L., and Page, D.C. (1997) Expression of DAZ, an azoospermia factor candidate, in human spermatogonia. Am. J. Hum. Genet. 60, 237–241.

    CAS  PubMed Central  PubMed  Google Scholar 

  39. Saxena, R., Brown, L.G., Hawkins, T., et al. (1996) The DAZ gene cluster on the human Y chromosome arose from autosomal gene that was transposed, repeatedly amplified and pruned. Nature Genet. 14, 292–299.

    Article  CAS  PubMed  Google Scholar 

  40. Cram, D.S., Ma, K., Bhasin, S., et al. (2000) Y chromosome analysis of infertile men and their sons conceived through intracytoplasmic sperm injection: vertical transmission of deletions and rarity of do novo deletions. Fertil. Steril. 74, 909–915.

    Article  CAS  PubMed  Google Scholar 

  41. Levron, J., Aviram-Goldring, A., Madgar, I., Raviv, G., Barkai, G., and Dor, J. (2000) Sperm chromosome analysis and outcome of IVF in patients with non-mosaic Klinefelter’s syndrome. Fertil. Steril. 74, 925–929.

    Article  CAS  PubMed  Google Scholar 

  42. Giltay, J.C., van Golde, R.J., and Kastrop, P.M. (2000) Analysis of spermatozoa from seven ICSI males with constitutional sex chromosomal abnormalities by fluorescent in situ hybridization. J. Assist. Reprod. Genet. 17, 151–155.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  43. Viville, S., Mollard, R., Bach, M.-L., Falquet, C., Gerlinger, P., and Warter, S. (2000) Do morphological anomalies reflect chromosomal aneuploidies? Hum. Reprod. 15, 2563–2566.

    Article  CAS  PubMed  Google Scholar 

  44. Bonduelle M., van Assche, E., Joris, H., et al. (2002) Prenatal testing in ICSI pregnancies: incidence of chromosomal anomalies in 1585 karyotypes and relation to sperm parameters. Hum. Reprod. 17, 2600–2614.

    Article  CAS  PubMed  Google Scholar 

  45. Palermo, G.D., Colombero, L.T., Schattman, G.L., Davis, O.K., and Rosenwaks, Z. (1996) Evolution of pregnancies and initial follow-up of newborns delivered after intracytoplasmic sperm injection. JAMA 276, 1893–1897.

    Article  CAS  PubMed  Google Scholar 

  46. Simpson, J.L. and Lamb, D.J. (2001) Genetic effects of intracytoplasmic sperm injection. Semin. Reprod. Med. 19, 239–249.

    Article  CAS  PubMed  Google Scholar 

  47. Bonduelle, M., Legein, J., Buysse, A., et al. (1996) Prospective follow-up study of 423 children born after intracytoplasmic sperm injection. Hum. Reprod. 11, 1558–1564.

    Article  CAS  PubMed  Google Scholar 

  48. Kurinczuk, J.J. and Bower, C. (1997) Birth defects in infants conceived by intracytoplasmic sperm injection: an alternative interpretation. Br. Med. J. 315, 1260–1266.

    Article  CAS  Google Scholar 

  49. Gicquel, C., Gaston, V., Mandelbaum, J., Siffroi, J.-P., Flahault, A., and Le Bouc, Y. (2003) In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCNQ1OT gene. Am. J. Hum. Genet. 72, 1338–1341.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  50. Marchington, D.R., Scott-Brown, M.S., Lamb, V.K., et al. (2002) No evidence for paternal mtDNA transmission to offspring or extra-embryonic tissues after ICSI. Mol. Hum. Reprod. 11, 1046–1049.

    Article  Google Scholar 

  51. Houshmand, M., Holme, E., Hanson, C., Wennerholm, U.B., and Hamberger, L. (1997) Is paternal mitochondrial DNA transferred to the offspring following intracytoplasmic sperm injection? J. Assist. Reprod. Genet. 14, 223–227.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Genetic Resources Medical Group Inc. and Childrens Hospital Los Angeles, Los Angeles, CA

    Linda Marie Randolph MD

Authors
  1. Linda Marie Randolph MD
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. AmeriPath Inc., USA

    Steven L. Gersen PhD

  2. School of Allied Health Professions, University of Connecticut, Storrs, CT

    Martha B. Keagle MEd

Rights and permissions

Reprints and permissions

Copyright information

© 2005 Humana Press Inc., Totowa, NJ

About this chapter

Cite this chapter

Randolph, L.M. (2005). Cytogenetics of Infertility. In: Gersen, S.L., Keagle, M.B. (eds) The Principles of Clinical Cytogenetics. Humana Press, Totowa, NJ. https://doi.org/10.1385/1-59259-833-1:247

Download citation

Publish with us

Policies and ethics

Search

Navigation