Human Genetics

, Volume 63, Issue 2, pp 132–138 | Cite as

Down's syndrome in the male. Reproductive pathology and meiotic studies

  • R. Johannisson
  • A. Gropp
  • H. Winking
  • W. Coerdt
  • H. Rehder
  • E. Schwinger
Original Investigations


Studies on testicular histology and meiosis were carried out by the use of light and electron microscopy in an 18-year-old Down's syndrome male in an attempt to follow the fate of the extra chromosome 21 and to evaluate the effects of this condition on spermatogenesis and the reproductive functions. The histological changes in the testes corresponded to spermatogenic arrest. Electron microscopic whole-mount spreadings of meiotic cells in the pachytene stage showed that in most nuclei an extra chromosome 21 was not detectable. Only in a small number of nuclei, univalents or trivalents with segmental pairing structures of an extra chromosome could be discovered. In contrast, the great majority of (C-banded) diakinesis figures showed the presence of a supernumerary G (no. 21) chromosome. The absence of a traceable extra chromosome 21 in most pachytene cells is explained by the assumption that it is intimately connected with and hidden in the sex vesicle, whose complex structure does not allow the identification of single elements. Strong support for this assumption is seen (a) in the general tendency of narrow spatial association of unpaired segments with the XY complex and (b) in close structural similarities occurring between univalents or nonsynapsed segments of trivalents and the nonpaired segments of the sex chromosomes. It is suggested that the association or connection of an extra chromosome with the XY complex during pachytene interferes with the phenomenon of X inactivation. In animal systems such abnormal interference is related with spermatogenic breakdown and, in a general way, with male hybrid type sterility. So far, the range of sterility vs. fertility in cases of male Down's syndrome is not yet fully clear, but it appears that impairment of fertility, and sterility are most frequent. If so, it is proposed that the effect of the trisomy 21 condition on spermatogenesis (and fertility) is a consequence of the behavior of the extra chromosome in the meiotic prophase.


Meiotic Prophase Extra Chromosome Meiotic Cell Pachytene Stage Male Hybrid 
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  1. Bloom SE, Goodpasture C (1976) An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes. Hum Genet 34:199–206Google Scholar
  2. de Boer P, Branje HEB (1979) Association of the extra chromosome of tertiary trisomic male mice with the sex chromosomes during first meiotic prophase and its significance for impairment of spermatogenesis. Chromosoma 73:369–379Google Scholar
  3. Chandley AC (1982) A pachytene analysis of two male-fertile paracentric inversions in chromosome 1 of the mouse and in the male-sterile double heterozygote. Chromosoma 85:127–135Google Scholar
  4. Coerdt W, Rehder H, Gausmann I, Johannisson R, Gropp A (in preparation) Quantitative histology of human fetal testes in chromosomal diseasesGoogle Scholar
  5. Counce SJ, Meyer GF (1973) Differentiation of the synaptonemal complex and the kinetochore in Locusta spermatocytes studied by whole mount electron microscopy. Chromosoma 44:231–253Google Scholar
  6. Evans EP, Breckon G, Ford CE (1964) An air-drying method for meiotic preparations from mammalian testes. Cytogenetics 3:289–294Google Scholar
  7. Finch RA, Böök JA, Finley WH, Finley SC, Tucker CC (1966) Meiosis in trisomic Down's syndrome. Ala J Med Sci 3:117–120Google Scholar
  8. Forejt J (1982) X-Y involvement in male sterility caused by autosome translocations — a hypothesis. In: Crosignani PG, Rubin BL (eds) Serono Clinical Colloquia on Reproduction 3. Genetic Control of Gamete Production and Function. Academic Press/Grune & Stratton, London, pp 135–151Google Scholar
  9. Giraud F, Luciani JM, Mattei JF, Galinier L, Stahl A, Gascard E (1971) Etude clinique, mitotique et méiotic d'une trisomie 21 avec diabète chez un homme de 52 ans. Marseille Médical 108:31–41Google Scholar
  10. Gonzales J, Lesourd S, Dutrillaux B (1981) Mitotic and meiotic analysis of a reciprocal translocation t(Y;3) in an azoospermic male. Hum Genet 57:111–114Google Scholar
  11. Gropp A, Winking H, Redi C (1982) Consequences of Robertsonian heterozygosity: Segregational impairment of fertility versus malelemited sterility. In: Crosignani PG, Rubin BL (eds) Serono Clinical Colloquia on Reproduction 3. Genetic control of gamete production and function. Academic Press/Grune & Stratton, London, pp 115–134Google Scholar
  12. Haldane JBS (1922) Sex ratio and unisexual sterility in hybrid animals. J Genet 12:101–109Google Scholar
  13. Handley DA, Olsen BR (1979) Butvar B-98 as a thin support film. Ultramicroscopy 4:479–480Google Scholar
  14. Holstein AF, Roosen-Runge EC (1981) Atlas of human spermatogenesis. Grosse Verlag, BerlinGoogle Scholar
  15. Hultén M, Lindsten J (1970) The behaviour of structural aberrations at male meiosis. Information from man. In: Jacobs PA, Price WH, Law P (eds) Human population cytogenetics. Pfizer Medical Monographs 5, Edinburgh University Press, pp 24–61Google Scholar
  16. Hungerford DA, Mellmann WJ, Balaban GB, La Badie GU, Messatzzia LR, Haller G (1970) Chromosome structure and function in man, III. Pachytene analysis and identification of the supernumerary chromosome in a case of Down's syndrome (mongolism). Proc Natl Acad Sci USA 67:221–224Google Scholar
  17. Jagiello G (1981) Reproduction in Down syndrome. In: De la Cruz FF, Gerald PS (eds) Trisomy 21 (Down syndrome) — Research perspectives. University Park Press, Baltimore, pp 151–162Google Scholar
  18. Kjessler B, de laChapelle A (1971) Meiosis and spermatogenesis in two postpubertal males with Down's syndrome: 47, XY, G+. Clin Genet 2:50–57Google Scholar
  19. Laurent C, Chandley AC, Dutrillaux B, Speed RM (1982) The use of surface spreading in the pachytene analysis of a human t(Y;17) reciprocal translocation. Cytogenet Cell Genet 33:312–318Google Scholar
  20. Lifschytz E, Lindsley DL (1972) The role of X-chromosome inactivation during spermatogenesis. Proc Natl Acad Sci USA 69:182–186Google Scholar
  21. Moses MJ (1977) Synaptonemal complex karyotyping in spermatocytes of the Chinese hamster (Cricetulus griseus) I. Morphology of the autosomal complement in spread preparations Chromosoma 60: 99–125Google Scholar
  22. Moses MJ (1980) New cytogenetic studies on mammalian meiosis. In: Serio M, Martini L (eds) Animal models in human reproduction. Raven Press, New York, pp 169–190Google Scholar
  23. Polani P, Dewhurst J, Fergusson J, Kelberman J (1982) Meiotic chromosomes in a female with primary trisomic Down's syndrome. Hum Genet (in press)bGoogle Scholar
  24. Sasaki M (1965) Meiosis in a male with Down's syndrome. Chromosoma 16:652–657Google Scholar
  25. Schröder J, Lydecken K, de la Chapelle A (1971) Meiosis and spermatogenesis in G-trisomic males. Humangenetik 13:15–24Google Scholar
  26. Solari AJ (1980) Synaptonemal complexes and associated structures in microspread human spermatocytes. Chromosoma 81:315–337Google Scholar
  27. Stearns PE, Droulard KE, Sahhar FH (1960) Studies bearing on fertility of male and female mongoloids. Am J Ment Defic 65:37–41Google Scholar
  28. Stockem W (1970) Die Eignung von Pioloform F für die Herstellung elektronenmikroskopischer Trägerfilme. Mikroskopie 26:185–189Google Scholar
  29. Sumner AT (1972) A simple technique for demonstrating centromeric heterochromatin. Exp Cell Res 75:304–306Google Scholar

Copyright information

© Springer-Verlag 1983

Authors and Affiliations

  • R. Johannisson
    • 1
  • A. Gropp
    • 1
  • H. Winking
    • 1
  • W. Coerdt
    • 1
  • H. Rehder
    • 1
  • E. Schwinger
    • 2
  1. 1.Institut für Pathologie der Medizinischen Hochschule LübeckLübeckGermany
  2. 2.Institut für Humangenetik der Medizinischen Hochschule LübeckLübeckGermany

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