Advertisement

Human Genetics

, Volume 86, Issue 2, pp 162–166 | Cite as

Infertility in human males with autosomal translocations: meiotic study of a 14;22 Robertsonian translocation

  • M. R. Guichaoua
  • B. Quack
  • R. M. Speed
  • B. Noel
  • A. C. Chandley
  • J. M. Luciani
Original Investigations

Summary

Pachytene analysis was undertaken in a male patient heterozygous for a 14q22q Robertsonian translocation. The relatively low rate of XY autosome association led us to examine the relationships existing between the chromosomes involved in the translocation, the rate of XY-autosome association and the degree of spermatogenic failure. Cytogenetic investigations in infertile men and the results of the meiotic studies suggest a direct correlation between the frequency of XY-autosome association at pachytene and the degree of spermatogenic failure. Whether associations arise as a consequence or cause of germ cell failure is still not certain.

Keywords

Internal Medicine Germ Cell Metabolic Disease Male Patient Infertility 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Anes A (1985) Chromosomes et troubles de la spermatogénèse. Thèse de doctorat en Médecine, MarseilleGoogle Scholar
  2. Batanian J, Hulten MA (1987) Electron microscopic investigations of synaptonemal complexes in an infertile human male carrier of a pericentric inversion inv(1) (p32q42). Hum Genet 76:81–89Google Scholar
  3. Bourrouillou G, Mansat A, Calvas P, Pontonnier F, Colombies P (1987) Anomalies chromosomiques et infertilité masculine. Etude de 1444 subjets. Bull Assoc Anat (Nancy) 71:29–31Google Scholar
  4. Burgoyne PS, Baker TG (1984) Meiotic pairing and gametogenic failure. In: Evans CW, Dickinson HG (eds) Controlling events in meiosis. Proceeding of the 38th Symposium, Reading. Company of Biologists, Cambridge, pp 349–362Google Scholar
  5. Chandley AC (1979) The chromosomal basis of human infertility. Br Med Bull 35:181–186Google Scholar
  6. Chandley AC, Speed RM, McBeath S, Hargreave TB (1986) A human 9;20 reciprocal translocation associated with male infertility analyzed at prophase and metaphase I of meiosis. Cytogenet Cell Genet 41:145–153Google Scholar
  7. Chandley AC, McBeath S, Speed RM, Yorston L, Hargreave TB (1987) Pericentric inversion in human chromosome 1 and the risk for male sterility. J Med Genet 24:325–334Google Scholar
  8. Forejt J (1974) Non-random association between a specific autosome and the X chromosome in meiosis of the male mouse: possible consequence of the homologous centromeres separation. Cytogenet Cell Genet 13:369–383Google Scholar
  9. Forejt J (1982) X-Y involvement in male sterility caused by autosome translocations — a hypothesis. Serono Clin Colloq Reprod 3:135–151Google Scholar
  10. Gabriel-Robez O, Ratomponirina C, Dutrillaux B, Carré-Pigeon F, Rumpler Y (1986a) Meiotic association between the XY chromosomes and the autosomal quadrivalent of a reciprocal translocation in two infertile men, 46,XY,t(19;22) and 46,XY,t (17;21). Cytogenet Cell Genet 43:154–160Google Scholar
  11. Gabriel-Robez O, Ratomponirina C, Rumpler Y, LeMarec B, Luciani JM, Guichaoua MR (1986b) Synapsis and synaptic adjustment in an infertile human male heterozygous for a pericentric inversion in chromosome 1. Hum Genet 72:148–152Google Scholar
  12. Guichaoua MR, Delafontaine D, Taurelle R, Taillemite JL, Morazzani MR, Luciani JM (1986) Loop formation and synaptic adjustment in a human male heterozygous for two pericentric inversions. Chromosoma 93:313–320Google Scholar
  13. Johannisson R, Gropp A, Winking H, Coerdt W, Rehder H, Schwinger E (1983) Down's syndrome in the male. Reproductive pathology and meiotic studies. Hum Genet 63:132–138Google Scholar
  14. Johannisson R, Löhrs U, Wolff HH, Schwinger E (1987) Two different XY-quadrivalent associations and impairment of fertility in men. Cytogenet Cell Genet 45:222–230Google Scholar
  15. Johannisson R, Löhrs U, Passarge E (1988) Pachytene analysis in males heterozygous for a familial translocation (9;12;13) (q22;q22;q32) ascertained through a child with partial trisomy 9. Cytogenet Cell Genet 47:160–166Google Scholar
  16. Luciani JM, Morazzani MR, Stahl A (1975) Identification of pachytene bivalents in human male meiosis using G-banding technique. Chromosoma 52:275–282Google Scholar
  17. Luciani JM, Guichaoua MR, Mattei A, Morazzani MR (1984) Pachytene analysis of a man with a 13q;14q translocation and infertility. Behavior of the trivalent and non-random association with the sex vesicle. Cytogenet Cell Genet 38:14–22Google Scholar
  18. Luciani JM, Guichaoua MR, Delafontaine D, North MO, Gabriel-Robez O, Rumpler Y (1987) Pachytene analysis in a 17;21 reciprocal translocation carrier: role of the acrocentric chromosomes in male sterility. Hum Genet 77:246–250Google Scholar
  19. Marmor D, Taillemite JL, Van Den Akker J, Portnoi MF, Le Porrier N, Joye N, Delafontaine D, Roux C (1980) Semen analysis in subfertile balanced-translocation carriers. Fertil Steril 34:496–502Google Scholar
  20. Miklos GLG (1974) Sex-chromosome pairing and male fertility. Cytogenet Cell Genet 13:558–577Google Scholar
  21. Retief AE, Van Zyl JA, Menkveld R, Fox MF, Kotzè GM, Brusnicky J (1984) Chromosome studies in 496 infertile males with a sperm count below 10 million/ml. Hum Genet 66:162–164Google Scholar
  22. Rosenmann A, Wahrman J, Richler C, Voss R, Persitz A, Goldman B (1985) Meiotic association between the XY chromosomes and unpaired autosomal elements as a cause of human male sterility. Cytogenet Cell Genet 39:19–29Google Scholar
  23. Saadallah N, Hulten M (1985) A complex three breakpoint translocation involving chromosomes 2, 4 and 9 identified by meiotic investigations of a human male ascertained for subfertility. Hum Genet 71:312–320Google Scholar
  24. Saadallah N, Hulten M (1986) EM investigations of surface spread synaptonemal complexes in a human male carrier of a pericentric inversion inv(13)(p12q14): the role of heterosynapsis for spermatocyte survival. Ann Hum Genet 50:369–383Google Scholar
  25. Setterfield LA, Mahadevaiah S, Mittwoch U (1988) Pachytene pairing in relation to sperm and oocyte numbers in a male-fertile reciprocal translocation of the mouse. Cytogenet Cell Genet 49:293–299Google Scholar
  26. Solari AJ (1980) Synaptonemal complexes and associated strucures in microspread human spermatocytes. Chromosoma 81:315–337Google Scholar
  27. Speed RM, Chandley AC (1990) The prophase of meiosis in human spermatocytes analysed by EM microspreading in infertile men and their controls, and comparisons with human oocytes. Hum Genet 84:547–554Google Scholar

Copyright information

© Springer-Verlag 1990

Authors and Affiliations

  • M. R. Guichaoua
    • 1
  • B. Quack
    • 2
  • R. M. Speed
    • 3
  • B. Noel
    • 2
  • A. C. Chandley
    • 3
  • J. M. Luciani
    • 1
  1. 1.Département d'Embryologie et de CytogénétiqueFaculté de MédecineMarseille Cedex 15France
  2. 2.Laboratoire de CytogénétiqueChambéryFrance
  3. 3.MRC Human Genetics UnitEdinburghUK

Personalised recommendations