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

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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.

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References

  • Anes A (1985) Chromosomes et troubles de la spermatogénèse. Thèse de doctorat en Médecine, Marseille

  • 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 76:81–89

    Google Scholar 

  • Bourrouillou G, Mansat A, Calvas P, Pontonnier F, Colombies P (1987) Anomalies chromosomiques et infertilité masculine. Etude de 1444 subjets. Bull Assoc Anat (Nancy) 71:29–31

    Google Scholar 

  • 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 349–362

    Google Scholar 

  • Chandley AC (1979) The chromosomal basis of human infertility. Br Med Bull 35:181–186

    Google Scholar 

  • 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 41:145–153

    Google Scholar 

  • 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 24:325–334

    Google Scholar 

  • 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 13:369–383

    Google Scholar 

  • Forejt J (1982) X-Y involvement in male sterility caused by autosome translocations — a hypothesis. Serono Clin Colloq Reprod 3:135–151

    Google Scholar 

  • 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 43:154–160

    Google Scholar 

  • 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 72:148–152

    Google Scholar 

  • 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 93:313–320

    Google Scholar 

  • 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 63:132–138

    Google Scholar 

  • Johannisson R, Löhrs U, Wolff HH, Schwinger E (1987) Two different XY-quadrivalent associations and impairment of fertility in men. Cytogenet Cell Genet 45:222–230

    Google Scholar 

  • 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 47:160–166

    Google Scholar 

  • Luciani JM, Morazzani MR, Stahl A (1975) Identification of pachytene bivalents in human male meiosis using G-banding technique. Chromosoma 52:275–282

    Google Scholar 

  • 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 38:14–22

    Google Scholar 

  • 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 77:246–250

    Google Scholar 

  • 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 34:496–502

    Google Scholar 

  • Miklos GLG (1974) Sex-chromosome pairing and male fertility. Cytogenet Cell Genet 13:558–577

    Google Scholar 

  • 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 66:162–164

    Google Scholar 

  • 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 39:19–29

    Google Scholar 

  • 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 71:312–320

    Google Scholar 

  • 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 50:369–383

    Google Scholar 

  • 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 49:293–299

    Google Scholar 

  • Solari AJ (1980) Synaptonemal complexes and associated strucures in microspread human spermatocytes. Chromosoma 81:315–337

    Google Scholar 

  • 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 84:547–554

    Google Scholar 

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Guichaoua, M.R., Quack, B., Speed, R.M. et al. Infertility in human males with autosomal translocations: meiotic study of a 14;22 Robertsonian translocation. Hum Genet 86, 162–166 (1990). https://doi.org/10.1007/BF00197698

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  • DOI: https://doi.org/10.1007/BF00197698

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