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References

  1. Alexiou, D., Chrysostomidou, O., Vlachos, I., and Deligeorgis, D., Trisomy 18 with ovarian dysgenesis. Acta paediat. scand.60 (1971) 93–97.

    Article  Google Scholar 

  2. Angell, R.R., Aitken, R.J., van Look, P.F.A., Lumsden, M.A., and Templeton, A.A., Chromosome abnormalities in human embryos after in vitro fertilization. Nature303 (1983) 336–338.

    Article  Google Scholar 

  3. Ashley, T., A re-examination of the case for homology between the X and Y chromosomes of mouse and man. Hum. Genet.67 (1984) 372–377.

    Article  Google Scholar 

  4. Aymé, S., and Lippman-Hand, A., Maternal age effect in aneuploidy: does altered embryonic selection play a role? Am. J. hum. Genet.34 (1982) 558–565.

    Google Scholar 

  5. Barnebei, V.M., Wyandt, H.E., and Kelly, T.E., A possible exception to the ‘critical region’ hypothesis of X-chromosome inactivation. Am. J. hum. Genet.31 (1979) 88A (Abstr.).

    Google Scholar 

  6. Beadle, G.W., A possible influence of the spindle fibre on crossingover in Drosophila. Proc. natn. Acad. Sci. USA18 (1932) 160–165.

    Article  Google Scholar 

  7. Berthelsen, J.G., Skakkebeak N.E., Perbøll, O., and Nielsen, J., Electron microscopical demonstration of the extra Y chromosome in spermatocytes from human XYY males, in Development and Function of Reproductive Organs. Eds. A.G. Byskov and H. Peters, Int. Congress Series, No. 559 Elsevier/North Holland, Amsterdam 1981

    Google Scholar 

  8. Bond, D.J. and Chandley, A.C., Aneuploidy, Oxford University Press, Oxford 1983.

    Google Scholar 

  9. Boué, J., Boué, A., and Lazar, P., Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions Teratology12 (1975) 11–26.

    Article  Google Scholar 

  10. Brook, J.D., Grosden, R.G. and Chandley, A.C., Maternal ageing and aneuploid embryos — Evidence from the mouse that biological and not chronological age is the important influence. Hum. Genet.66 (1984) 41–45.

    Article  Google Scholar 

  11. Bühler, E.M., A synopsis of the human Y chromosome. Hum. Genet.55 (1980) 145–175.

    Article  Google Scholar 

  12. Burgoyne, P.S., The role of the sex chromosomes in mammalian germ cell differentiation. Annls Biol. anim. Biochim. Biophys.18 (1978) 317–325.

    Article  Google Scholar 

  13. Burgoyne, P.S., Evidence for an association between univalent Y chromosomes and spermatocyte loss in XYY mice and men. Cytogenet. Cell Genet.23 (1979) 84–89.

    Article  Google Scholar 

  14. Burgoyne, P.S., Genetic homology and crossing-over in the X and Y chromosomes of mammals. Hum. Genet.61 (1982) 85–90.

    Article  Google Scholar 

  15. Burgoyne, P.S., The origins of men with two X chromosomes. Nature307 (1984) 109.

    Article  Google Scholar 

  16. Burgoyne, P.S., and Baker, T., Meiotic pairing and gametogenic failure, in: Controlling events in meiosis, Proc. 38th SEB Symposium Reading, UK, pp. 349–362 Eds, C.W. Evans and H.G. Dickinson, Company of Biologists, Cambridge 1984.

    Google Scholar 

  17. Burgoyne, P.S., and Biddle, F.G., Spermatocyte loss in XYY mice. Cytogenet Cell Genet.28 (1980) 143–144.

    Article  Google Scholar 

  18. Cacheiro, N.L.A., Russell, L.B., and Swartout, M.S., Translocations, the predominant cause of total sterility in sons of mice treated with mutagens. Genetics76 (1974) 73–91.

    Article  Google Scholar 

  19. Cann, H.M., Sakaguchi, S., Stone, J., Gold, E., and Luzzatti, L., Familial X-autosome translocation (X;21). Am. J. hum. Genet.27 (1975) 23A (Abstr).

    Google Scholar 

  20. Carothers, A.D., Evidence that altered embryonic selection contributes to maternal age effect in aneuploidy: A spurious conclusion attributable to pooling of heterogeneous data? Am. J. hum. Genet.35 (1983) 1057–1059.

    Google Scholar 

  21. Carpenter, A.T.C., Electron microscopy of meiosis in Drosophila melanogaster. II. The recombination nodule — a recombination associated structure at pachytene? Proc. natn. Acad. Sci. USA72 (1975) 3186–3189.

    Article  Google Scholar 

  22. Carpenter, A.T.C., Synaptonemal complex and recombination nodules in wild typeDrosophila melanogaster females. Genetics92 (1979) 511–541.

    Article  Google Scholar 

  23. Carr, D.H., Haggar, R.A., and Hart, A.G., Germ cells in the ovaries of XO female infants, Am. J. clin. Path.49 (1968) 521–526.

    Article  Google Scholar 

  24. Carter, C.O., Genetics in relation to urology, in: Scientific Foundations of Urology, 2nd edn, pp. 335–343 Eds, G.D. Chisholm and D.I. Williams, Heinemman, London 1982.

    Google Scholar 

  25. Cattanach, B.M., Pollard, C.E., and Hawkes, S.G., Sex-reversed mice: XX and XO males. Cytogenet. Cell Genet.10 (1971) 318–337.

    Article  Google Scholar 

  26. Chaganti, R.S.K., Jhanwar, S.C., Ehrenbard, L.T., Kourides, I.A., and Williams, J.J., Genetically determined asynapsis, spermatogenic degeneration and infertility in man. Am. J. hum. Genet. (1980)32 833–848.

    Google Scholar 

  27. Chandley, A. C., Human meiotic studies, in: Modern Trends in Human Genetics, 2nd edn, pp. 31–82. Ed. A. E. H. Emery, Butterworths, London and Boston 1975.

    Google Scholar 

  28. Chandley, A. C., The chromosomal basis of human infertility. Br. med. Bull35 (1979) 181–186.

    Article  Google Scholar 

  29. Chandley, A. C., The origin of chromosomal aberrations in man and their potential for survival and reproduction in the adult human population. Annls Génét.24 (1981) 5–11.

    Google Scholar 

  30. Chandley, A. C., A pachytene analysis of two male-fertile paracentric inversions in Chromosome 1 of the mouse and in the male-sterile double heterozygote. chromosoma85 (1982) 127–135.

    Article  Google Scholar 

  31. Chandley, A. C., Infertility and chromosome abnormality, in: Oxford Reviews of Reproductive Biology, vol. 6, pp. 1–46. Ed. J. R. Clarke. Oxford University Press, Oxford 1984.

    Google Scholar 

  32. Chandley, A. C., and Edmond, P. E., Meiotic studies on a subfertile patient with a ring Y chromosome, Cytogenetics10 (1971) 295–304.

    Article  Google Scholar 

  33. Chandley, A. C., Hargreave, T. B., and Fletcher, J. M., Translocation 21q22q in an infertile human male. J. med. Genet.19 (1982) 366–369.

    Article  Google Scholar 

  34. Chandley, A. C., Goetz, P., Hargreave, T. B., Joseph, A. M., and Speed, R. M., On the nature and extent of XY pairing at meiotic prophase in man. Cytogenet. Cell Genet.38 (1984) 241–247.

    Article  Google Scholar 

  35. Chandley, A. C., Hargreave, T. B., Fletcher, J. M., Soos, M., Axworthy, D., and Price, W. H., Trisomy 8: Report of a mosaic human male with near-normal phenotype and normal IQ, ascertained through infertility. Hum. Genet.55 (1980) 31–38.

    Article  Google Scholar 

  36. Chen, A., and Falek, A., Cytological evidence for the association of the short arms of the X and Y in the human male. Nature232 (1971) 555–556.

    Article  Google Scholar 

  37. Cooke, H. J., Brown, W. R. A., and Rappold, G. A., Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal. Nature317 (1985) 687–692.

    Article  Google Scholar 

  38. Cooke, H. J., Schmidtke, J., and Gosden, J. R., Characterisation of a human Y chromosome repeated sequence and related sequences in higher primates. Chromosoma87 (1982) 492–502.

    Article  Google Scholar 

  39. de la Chapelle, A., The etiology of maleness in XX men. Hum. Genet.58 (1981) 105–116.

    Article  Google Scholar 

  40. de la Chapelle, A., Tippett, P. A., Wetterstrand, G., and Page, D., Genetic evidence of X-Y interchange in a human XX male. Nature307 (1984) 170–171.

    Article  Google Scholar 

  41. Edmonds, D. K., Lindsay, K. S., Miller, J. F., Williamson, E., and Wood, P. J., Early embryonic mortality in women. Fert. Steril.38 (1982) 447–453.

    Article  Google Scholar 

  42. Egozcue, J., Templado, C., Vidal, F., Navarro, J., Morer-Fargas, F., and Marina, S., Meiotic studies in a series of 1100 infertile and sterile males. Hum. Genet.65 (1983) 185–188.

    Article  Google Scholar 

  43. Epstein, C. J., Mamalian oocytes. X chromosome activity, Science163 (1969) 1078–1079.

    Article  Google Scholar 

  44. Evans, E. P., Burtenshaw, M. D., and Cattanach, B. M., Meiotic crossing-over between the X and Y chromosomes of male mice carrying the sex-reversing (Sxr) factor. Nature300 (1982) 443–445.

    Article  Google Scholar 

  45. Evans, E. P., Ford, C. E., Chaganti, R. S. K., Blank, C. E., and Hunter, H., XY spermatocytes in an XYY male. Lanceti (1970) 719–720.

    Article  Google Scholar 

  46. Faed, M. J. W., Lamont, M. A., and Baxby, K., Cytogenetic and histological studies of testicular biopsies from subfertile men with chromosome anomaly. J. med. Genet.19 (1982) 49–56.

    Article  Google Scholar 

  47. Ferguson-Smith, M. A., X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancetii (1966) 475–476.

    Article  Google Scholar 

  48. Ford, C. E., Cytogenetics and sex determination in man and mamals. J. Biosoc. Soc. Suppl.2 (1970) 7–30.

    Article  Google Scholar 

  49. Ford, C. E., The time in development at which gross genome imbalance is expressed, in: The Early Development of Mammals, pp. 285–304. Eds M. Balls and A. E. Wild. Cambridge University Press, Cambridge 1975.

    Google Scholar 

  50. Forejt, J., Nonrandom assication between a specific autosome and the X chromosome in meiosis of the male mouse: possible consequence of homologous centromeres separation. Cytogenet. Cell Genet.13 (1974) 369–383.

    Article  Google Scholar 

  51. Forejt, J., X-Y involvement in male sterility caused by autosome translocations — A hypothesis, in: Genetic control of gamete production and function, pp. 135–151. Eds P. G. Crosignani and B. L. Rubin. Academic Press. Grune and Stratton, 1982.

  52. Forejt, J., Gregorová, S., and Goetz, P., XY pair associates with the synaptonemal complex of autosomal male-sterile translocations in pachytene spermatocytes of the mouse (Mus musculus). Chromosoma82 (1981) 41–53.

    Article  Google Scholar 

  53. Gartler, S. M., Liskay, R. M., and Gant, N., Two functional X chromosomes in human fetal oocytes. Expl Cell Res.82 (1973) 464–466.

    Article  Google Scholar 

  54. Goodfellow, P., Banting, G., Sheer, D., Ropers, H. H., Caine, A., Ferguson-Smitz, M. A., Povey, S., and Voss, R., Genetic evidence that a Y-liked gene in man is homologous to a gene on the X chromosome. Nature302 (1983) 346–349.

    Article  Google Scholar 

  55. Gordon, J. W., and Ruddle, F. H., Mammalian gonadal determination and gametogenesis, Science211 (1981) 1265–1271.

    Article  Google Scholar 

  56. Gropp, A., Value of an animal model for trisomy. Virchows Arch395 (1982) 117–131.

    Article  Google Scholar 

  57. Guanti, G., Zuffardi, O., and Tiepolo, L., rDNA levels in infertile male carriers of Robertsonian translocations. Cytogenet. Cell Genet.27 (1980) 162–167.

    Article  Google Scholar 

  58. Guellaen, G., Casanova, M., Bishop, C., Geldworth, D., Andre, G., Gellous, M., and Weissenbach, J., Human XX males with Y singlecopy DNA fragments. Nature307 (1984) 172–173.

    Article  Google Scholar 

  59. Hassold, T., Chiu, D., and Yamane, J. A., Parental origin of autosomal trisomies, Ann. hum. Genet.48 (1984) 1–16.

    Article  Google Scholar 

  60. Hassold, T., Quillen, S. D., and Yamane, J. A., Sex ratio in spontaneous abortions. Ann. hum. Genet.47 (1983) 39–47.

    Article  Google Scholar 

  61. Hassold, T., Jacobs, P., Kline, J., Stein, Z., and Warburton, D., Effect of maternal age on autosomal trisomies, Ann. hum. Genet.44 (1980) 29–36.

    Article  Google Scholar 

  62. Højager, B., Peters, H., Byskov, A. G., and Faber, M., Follicular development in ovaries of children with Down's syndrome. Acta paediat. scand.67 (1978) 637–643.

    Article  Google Scholar 

  63. Holm, P. B., and Rasmussen, S. W., Human meiosis. I. The human pachytene karyotype analysed by three dimensional reconstructions of the synaptonemal complex. Carlsberg Res. Commun.42 (1977) 283–323.

    Article  Google Scholar 

  64. Holm, P. B., and Rasmussen, S. W., Human meiosis. III. Electron microscopical analysis of chromosome pairing in an individual with a balanced translocation 46, XY, t(5p-; 22p+). Carlsberg Res. Commun.43 (1978) 329–350.

    Article  Google Scholar 

  65. Holm, P. B., and Rasmussen, S. W., Human meiosis, V. Substages of pachytene in human spermatogenesis. Carlsberg Res. Commun.48 (1983) 351–383.

    Article  Google Scholar 

  66. Holm, P. B., and Rasmussen, S. W., Human meiosis. VI. Crossingover in human spermatocytes. Carlsberg Res. Commun.48 (1983) 385–413.

    Article  Google Scholar 

  67. Holm, P. B., and Rasmussen, S. W., Human meiosis. VII. Chiasma formation in human spermatocytes. Carlsberg Res. Commun.48 (1983) 415–456.

    Article  Google Scholar 

  68. Holm, P. B., Rasmussen, S. W., and von Wettstein, D., The possible contribution of electron microscopy to the understanding of the mechanism of nondisjunction in man. Mut. Res.61 (1979) 115–119.

    Article  Google Scholar 

  69. Hook, E. B., Rates of chromosome abnormalities at different maternal ages. Obstet. Gynec.58 (1981) 282–285.

    Google Scholar 

  70. Hook, E. B., Down syndrome rates and relaxed selection at older maternal ages. Am. J. hum. Genet.35 (1983) 1307–1313.

    Google Scholar 

  71. Hotta, Y., and Stern, H., A DNA-binding protein in meiotic cells inLilium, Devl Biol.26 (1971) 87–99.

    Article  Google Scholar 

  72. Hotta, Y., and Stern, H., DNA unwinding protein from meiotic cells ofLilium, Biochemistry17 (1978) 1872–1880.

    Article  Google Scholar 

  73. Hotta, Y., Chandley, A. C., and Stern, H., Meiotic crossing-over in lily and mouse. Nature269 (1977) 240–242.

    Article  Google Scholar 

  74. Hultén, M., and Lindsten, J., The behaviour of structural aberrations at male meiosis; information from man, in: Human Population Cytogenetics. Eds P. A. Jacobs, W. H. Price and P. Law. Pfizer Medical Monographs No. 5. Edinburgh University Press. Edinburgh 1970.

    Google Scholar 

  75. Hultén, M., and Lindsten, J., Cytogenetic aspects of human male meiosis, in: Advances in Human Genetics, vol. 4, pp. 327–387. Eds. H. Harris and K. Hirschhorn. Plenum Press, New York 1973.

    Chapter  Google Scholar 

  76. Hultén, M., and Pearson, P. L., Fluorescent evidence for spermatocytes with two Y chromosomes in an XYY male. Ann. hum. Genet.34 (1971) 273–276.

    Article  Google Scholar 

  77. Hungerford, D. A., Mellman, W. J., Balaban, G. B., LaBadie, G. U., Messatzzia, L. R., and Haller, G., Chromosome structure and function in man. III. Pachytene analysis and identification of the supernumerary chromosome in a case of Down's syndrome (mongolism). Proc. natn. Acad. Sci. USA67 (1970) 221–224.

    Article  Google Scholar 

  78. Jacobs, P. A., and Hassold, T. J., The origin of chromosome abnormalities in spontaneous abortions, in: Human Embryonic and Fetal Death, pp. 289–298. Eds I. H. Porter and E. B. Hook. Academic Press. New York 1980.

    Google Scholar 

  79. Jacobs, P. A., Melville, M., Ratcliffe, S., Keay, A. J., and Syme, J., A cytogenetic survey of 11,680 newborn infants. Ann. hum. Genet.37 (1974) 359–376.

    Article  Google Scholar 

  80. Jacobs, P. A., Harnden, D. G., Buckton, K. E., Court Brown, W. M., King, M. J., McBride, J. A., Macgregor, T. N., and Maclean, N., Cytogenetics studies in primary amenorrhoea. Lanceti (1961) 1183–1188.

    Article  Google Scholar 

  81. Johannisson, R., Gropp, A., Winking, H., Coerdt, W., Rehder, H., and Swinger, E., Down's syndrome in the male. Reproductive pathology and meiotic studies. Hum. Genet.63 (1983) 132–138.

    Article  Google Scholar 

  82. Joseph, A. M., Gosden, J. R., and Chandley, A. C., Estimation of aneuploidy levels in human spermatozoa using chromosome specific probes and in situ hybridisation. Hum. Genet.66 (1984) 234–238.

    Article  Google Scholar 

  83. Kierszenbaum, A. L., and Tres, L. L., Transcription sites in spread meiotic prophase chromosomes from mouse spermatocytes. J. Cell Biol.63 (1974) 923–925.

    Article  Google Scholar 

  84. King, C. R., Magenis, E., and Bennett, S., Pregnancy and the Turner syndrome. Obstet. Gynec.52 (1978) 617–624.

    Google Scholar 

  85. Kjessler, B., Chromosomal constitution and male reproductive failure, in: Male Fertility and Sterility, pp. 231–247. Eds R. E. Mancini and L. Martin. Academic Press, New York 1974.

    Google Scholar 

  86. Laurent, C., Chandley, A. C., Dutrillaux, B., and Speed, R. M., The use of surface spreading in the pachytene analysis of a human t(Y;17) reciprocal translocation. Cytogenet. Cell Genet.33 (1982) 312–318.

    Article  Google Scholar 

  87. Laurie, D. A., Palmer, R. W., and Hultén, M. A., Studies on chiasma frequency and distribution in two fertile men carrying reciprocal translocations; one with a t(9;10) karyotype and one with a t(Y;10) karyotype. Hum. Genet.68 (1984) 235–247.

    Article  Google Scholar 

  88. Léonard, A., and Deknudt, Gh., Etude cytologique d'une translocation chromosome Y- autosome chez la souris. Experientia25 (1969) 876–877.

    Article  Google Scholar 

  89. Lifschytz, E., and Lindsley, D. L., The role of X-chromosome inactivation during spermatogenesis. Proc. natn. Acad. Sci. USA62 (1972) 182–186.

    Article  Google Scholar 

  90. Lindsten, J., Marsk, L., Berglund, K., Iselius, L., Ryman, N., Anneren, G., Kjessler, B., Mitalman, F., Nordenson, I., Wahlström, J., and Vejlens, L., Incidence of Down's syndrome in Sweden during the years 1968–1977, in: Trisomy 21, pp 195–210. Eds G. R. Burgio, M. Fraccaro, L. Tiepolo and U. Wolf. Springer-Verlag, Heidelberg 1981.

    Chapter  Google Scholar 

  91. Luciani, J. M., Guiachaoua, M. R., Mattei, A., and Morazzani, M. R., Pachytene analysis of a man with a 13q; 14q translocation and infertility. Behaviour of the trivalent and nonrandom association with the sex vesicle. Cytogenet. Cell Genet.38 (1984) 14–22.

    Article  Google Scholar 

  92. Lyon, M. F., Sex chromosome activity in germ cells, in: Physiology and Genetics of Reproduction, Part A, pp. 63–71. Eds. E. M. Coutinho and F. Fuchs. Plenum Press, New York 1974.

    Chapter  Google Scholar 

  93. Lyon, M. F., and Meredith, R., Autosomal translocations causing male sterility and viable aneuploidy in the mouse. Cytogenetics5 (1966) 335–354.

    Article  Google Scholar 

  94. McIlree, M. E., Selby-Tulloch, W., and Newsam, J. E., Studies on human meiotic chromosomes from testicular tissue. Lanceti (1966) 679–682.

    Article  Google Scholar 

  95. McIlree, M. E., Price, W. H., Court Brown, W. M., Selby Tulloch, W., Newsam, J. E., and Maclean, N., Chromosome studies on testicular cells from 50 subfertile men. Lancetii (1966) 69–71.

    Article  Google Scholar 

  96. McLaren, A., Does the chromosomal sex of a mouse germ cell affect its development? in: Current Problems in Germ Cell Differentiation, pp. 225–240. Eds A. McLaren and C. C. Wylie. Cambridge University Press, Cambridge 1983.

    Google Scholar 

  97. McLaren, A., Chandley, A. C., and Kofman-Alfaro, S., A study of meiotic germ cells in the gonads of foetal mouse chimaeras. J. Embryol. expl Morph.27 (1972) 515–524.

    Google Scholar 

  98. Madan, K., Hompes, P. G. A., Schoemaker, J., and Ford, C. E., X-autosome translocation with a breakpoint in Xq22 in a fertile woman and her 47, XXX infertile daughter. Hum. Genet.59 (1981) 290–296.

    Article  Google Scholar 

  99. Martin, R. H., Balkan, W., Burns, K., Rademaker, A. W.; Lin, C. C., and Rudd, N. L., The chromosome constitution of 1000 human spermatozoa. Hum. Genet.63 (1983) 305–309.

    Article  Google Scholar 

  100. Meyer, W. J., Migeon, B. R., and Migeon, C. J., Locus on human X-chromosome for dihydrotestosterone receptor and androgen insensitivity. Proc. natn. Acad. Sci. USA72 (1975) 1469–1472.

    Article  Google Scholar 

  101. Mikamo, K., Aguercif, M., Hazeghi, P., and Martin-du-Pain, R., Chromatin-positive Klinefelter's syndrome: a quantitative analysis of spermatogonial deficiency at 3, 4 and 12 months of age. Fert. Steril.19 (1968) 731–739.

    Article  Google Scholar 

  102. Mikkelsen, M., Hallberg, A., and Poulsen, H., Maternal and paternal origin of extra chromosome in trisomy 21. Hum. Genet.32 (1976) 17–21.

    Article  Google Scholar 

  103. Mikkelsen, M., Poulsen, H., Grinsted, J., and Lange, A., Non-disjunction in trisomy 21. Study of chromosomal heteromorphisms in 110 families. Ann. hum. Genet.44 (1980) 17–28.

    Article  Google Scholar 

  104. Miklos, G. L. G., Sex chromosome pairing and male fertility. Cytogenet. and Cell Genet.13 (1974) 558–577.

    Article  Google Scholar 

  105. Miller, J. F., Williamson, E., Glue, J., Gordon, Y. B., Grudzinskas, J. G., and Sykes, A., Fetal loss after implantation. Lancetii (1980) 554–556.

    Article  Google Scholar 

  106. Mittwoch, U., Mahadevaiah, S., and Olive, M. B., Retardation of ovarian growth in male-sterile mice carrying an autosomal translocation. J. med. Genet.18 (1981) 414–417.

    Article  Google Scholar 

  107. Moses, M. J., Microspreading and the synaptonemal complex in cytogenetic studies, in: Chromosomes Today, vol. 6, pp. 71–82. Eds A. de la Chapelle and M. Sorsa. Elsevier/North Holland, Amsterdam 1977.

    Google Scholar 

  108. Moses, M. J., New cytogenetic studies on mammalian meiosis, in: Animal Models in Human reproduction, pp. 169–190. Eds M. Serio and L. Martini. Raven Press, New York 1980.

    Google Scholar 

  109. Moses, M. J., Counce, S. J., and Paulson, D. F., Synaptonemal complex complement of man in spreads of spermatocytes, with details of the sex chromosome pair. Science187 (1975) 363–365.

    Article  Google Scholar 

  110. Moses, M. J., Poorman, P. A., Roderick, T. H., and Davisson, M. T., Synaptonemal complex analysis of mouse chromosomal rearrangements. IV. Synapsis and synaptic adjustment in two paracentric inversions. Chromosoma (Berl.)84 (1982) 457–474.

    Article  Google Scholar 

  111. Nordensen, I., Population studies in northern Sweden. IX. Incidence of Down's syndrome by time, region and maternal age. Hereditas91 (1979) 257–262.

    Article  Google Scholar 

  112. Pearson, P. L., and Bobrow, M., Definitive evidence for the short arm of the Y chromosome associating with the X chromosome during meiosis in the human male. Nature226 (1970) 959–961.

    Article  Google Scholar 

  113. Peters, H., Byskov, A. G., and Grinsted, J., The development of the ovary during childhood in health and disease, in: Functional Morphology of the Human Ovary, pp. 26–34. Ed. J. R. T. Coutts, M. T. P. Press Ltd, Lancaster 1981.

    Google Scholar 

  114. Polani, P. E., Pairing of X and Y chromosomes, non-inactivation of X-lined genes, and the maleness factor. Hum. Genet.60 (1982) 207–211.

    Article  Google Scholar 

  115. Rappold, G. A., Cremer, T., Cremer, C., Back, W., Bogenberger, J., and Cooke, H. J., Chromosome assignment of two cloned DNA probes hybridizing predominantly to human sex chromosomes. Hum. Genet.65 (1984) 257–261.

    Article  Google Scholar 

  116. Rasmussen, S. W., and Holm, P. B., Human meiosis. II Chromosome pairing and recombination nodules in human spermatocytes. Carlsberg Res. Commun.43 (1978) 275–327.

    Article  Google Scholar 

  117. Rasmussen, S. W., and Holm, P. B., Human meiosis. IV. The elimination of synaptonemal complex fragments from metaphase I bivalents of human spermatocytes. Carlsberg Res. Commun.43 (1979) 423–438.

    Article  Google Scholar 

  118. Rasmussen, S. W., and Holm, P. B., Mechanics of meiosis. Hereditas93 (1980) 187–216.

    Article  Google Scholar 

  119. Read, S. G., The distribution of Down's syndrome. J. ment. Defic. Res.26 (1982) 215–227.

    Google Scholar 

  120. Reyes, F. I., Koh, K. S., and Faiman, C., Fertility in women with gonadal dysgenesis. Am. J. Obstet. Gynec.126 (1976) 668–670.

    Article  Google Scholar 

  121. Rosenmann, A., Wahrman, J., Richler, C., Voss, R., Persitz, A., and Goldman, B., Meiotic association between the XY chromosomes and unpaired autosomal elements as a cause of human male sterility. Cytogenet. Cell Genet.39 (1985) 19–29.

    Article  Google Scholar 

  122. Russell, P., and Altschuler, F., The ovarian dysgenesis of trisomy 18. Pathology7 (1975) 149–155.

    Article  Google Scholar 

  123. Sarto, G. E., Therman, E., and Patau, K., X inactivation in man: a woman with t(Xq-; 12q+). Am. J. hum. Genet.25 (1973) 262–270.

    Google Scholar 

  124. Schempp, W., and Meer, B., Cytologic evidence for three human X-chromosomal segments escaping inactivation. Hum. Genet.63 (1983) 171–174.

    Article  Google Scholar 

  125. Schreinemachers, D. M., Cross, P. K., and Hook, E. B., Rates of trisomies 21, 18, 13 and other chromosome abnormalities in about 20,000 prenatal studies compared with estimated rates in live births. Hum. Genet.61 (1982) 318–324.

    Article  Google Scholar 

  126. Searle, A. G., The genetics of sterility in the mouse, in: Genetic Control of Gamete Production and Function, pp. 93–114. Eds P. G. Crosignani and B. L. Rubin. Academic Press/Grune and Stratton 1982.

  127. Simpson, J. L., Abnormal sexual differentiation in humans. A. Rev. Genet.16 (1982) 193–224.

    Article  Google Scholar 

  128. Singh, R.P., and Carr, D.H., The anatomy and histology of XO human embryos and fetuses. Anat. Rec.155 (1966) 369–383.

    Article  Google Scholar 

  129. Skakkebaek, N., Hultén, M., and Philip, J., Quantification of human seminiferous epithelium. IV. Histological studies in 17 men with numerical and structural autosomal aberrations. Acta path. microbiol. scand. Sect. A81 (1973) 112–124.

    Google Scholar 

  130. Skakkebaek, N.E., Hultén, M., Jacobsen, P., and Mikkelsen, M., Quantification of human seminiferous epithelium. II. Histological studies in eight 47, XYY men. J. Reprod. Fert.32 (1973) 391–401.

    Article  Google Scholar 

  131. Smith, A., Fraser, I.S., and Elliott, G., An infertile male with balanced Y; 19 translocation. Review of Y; autosome translocations. Annls Génét.22 (1979) 189–194.

    Google Scholar 

  132. Smith, G.F., and Berg, J.M., Down's anomaly. 2nd edn. Churchill Livingstone Edinburgh, London, New York 1976.

    Google Scholar 

  133. Solari, A.J., Synaptonemal complexes and associated structures in microspread human spermatocytes. Chromosoma81 (1980) 315–337.

    Article  Google Scholar 

  134. Solari, A.J., and Tres, L., The three dimensional reconstruction of the XY chromosomal pair in human spermatocytes. J. Cell Biol.45 (1970) 43–53.

    Article  Google Scholar 

  135. Speed, R.M., Meiotic configurations in female trisomy 21 foetuses. Hum. Genet.66 (1984) 176–180.

    Article  Google Scholar 

  136. Speed, R.M., The prophase stages in human foetal oocytes studied by light and electron microscopy. Hum. Genet.69 (1985) 69–75.

    Article  Google Scholar 

  137. Speed, R.M., Oocyte development in XO foetuses of man and mouse: The possible role of heterologous X-chromosome pairing in germ cell survival. Chromosoma, 1986 in press.

  138. Stern, H., Chromosome organization and DNA metabolism in meiotic cells, in: Chromosomes Today, vol. 7, pp. 94–103. George Allen and Unwin 1981.

  139. Stern, H., and Hotta, Y., Biochemistry of meiosis, Phil. Trans R. Soc. Lond. B277 (1977) 277–294.

    Article  Google Scholar 

  140. Stern, H., and Hotta, Y., The organization of DNA metabolism during the recombinational phase of meiosis with special reference to humans. Molec. cell. Biochem.29 (1980) 145–158.

    Article  Google Scholar 

  141. Summitt, R.L., Tipton, R.E., Wilroy, R.S., Martens, P.R., and Phelan, J.P., X-autosome translocations: A review. Birth Defects: Original Article Series, vol. XIV, No. 6C, pp. 219–247. The National Foundation 1978.

  142. Thompson, H., Melnyk, J., and Hecht, F., Reproduction and meiosis in XYY. Lancet2 (1967) 831.

    Article  Google Scholar 

  143. Thomson, E., Fletcher, J., Chandley, A.C., and Kučerová, M., Meiotic and radiation studies in four oligochiasmatic men. J. med. Genet.16 (1979) 270–277.

    Article  Google Scholar 

  144. Tiepolo, L., and Zuffardi, O., Localization of factors controlling spermatogenesis in the non-fluorescent portion of the human Y chromosome long arm. Hum. Genet.34 (1976) 119–124.

    Article  Google Scholar 

  145. Tiepolo, L., Zuffardi, O., Fraccaro, M., and Giarola, A., Chromosome abnormalities and male infertility, in: Oligozoospermia: Recent Progress in Andrology, pp. 233–245. Eds G. Frajese, E.S.E. Hafez, C. Conti and A. Fabbrini, Raven Press, New York 1981.

    Google Scholar 

  146. Tres, L.L., Nucleolar RNA synthesis of meiotic prophase spermatocytes in the human testis. Chromosoma53 (1975) 141–151.

    Article  Google Scholar 

  147. Uchida, I., Epidemiology of mongolism: The Manitoba study, in: Down's Syndrome (Mongolism), pp. 361–369. Ed. V. Apgar. Ann. N.Y. Acad. Sci.171 (1970).

  148. van der Linden, A.G.J.M., Pearson, P.L., and Kamp, J.J.P., van de, Cytological assessment of meiotic exchange in a human male with a pericentric inversion of chromosome No. 4, Cytogenet. Cell Genet.14 (1975) 126–139.

    Article  Google Scholar 

  149. Wachtel, S.S., and Selden, J.R., The X chromosome in abnormal sexual development, in: Cytogenetics of the Mammalian X Chromosome, Part B: X Chromosome Anomalies and their Clinical Manifestations, pp. 87–114. Alan R. Liss, New York 1983.

    Google Scholar 

  150. Wallace, B.M.N., and Hultén, M.A., Triple chromosome synapsis in oocytes from a human foetus with trisomy 21. Ann. hum. Genet.47 (1983) 271–276.

    Article  Google Scholar 

  151. Warburton, D., and Fraser, F.C.: Spontaneous abortion risks in man: data from reproductive histories collected in Medical genetics Unit. Am. J. hum. Genet.16 (1964) 1–27.

    Google Scholar 

  152. Warburton, D., Stein, Z., and Kline, J., In utero selection against fetuses with trisomy. Am. J. hum. Genet.35 (1983) 1059–1063.

    Google Scholar 

  153. Warburton, D., Stein, Z., Kline, J., and Susser, M., Chromosome abnormalities in spontaneous abortion: data from the New York City study, in: Human Embryonic and Fetal Death, pp. 261–288. Eds I.H. Porter and E.B. Hook, Academic Press, New York 1980.

    Google Scholar 

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Chandley, A.C. The genetics of human reproduction. Experientia 42, 1109–1117 (1986). https://doi.org/10.1007/BF01941285

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