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Chromosome Aberrations and Mammalian Reproduction

  • Chapter
Fertilization and Embryonic Development In Vitro

Abstract

Chromosome heteroploidy is responsible for a substantial segment of observed birth defects and reproductive inefficiency. Sterility, reduced fertility, embryonic or fetal death, stillbirths, and/or congenital malformation may result from an aberration in chromosome number. Sandier and Hecht (1973) argue that the maximum nonlethal excess of autosomal DNA in humans is 5–6% and that deletion of more than 2–3% of the haploid autosomal complement is incompatible with life.

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References

  • Alberman, E., Elliott, M., Creasy, M., and Dhadial, R., 1975, Previous history in mothers presenting with spontaneous abortions, Br. J. Obstet. Gynaecol. 82:366–373.

    Article  Google Scholar 

  • Barros, C., Vliegenthart, A. M., and Franklin, L. E., 1972, Polyspermic fertilization of hamster eggs in vitro, J. Reprod. Fertil. 28:117–120.

    Article  Google Scholar 

  • Basier, A., 1978, Timing of meiotic stages in oocytes of the Syrian hamster (Mesocricetus auratus) and analysis of induced chromosome aberrations, Hum. Genet. 42:67–77.

    Article  Google Scholar 

  • Basier, A., Buselmaier, B., and Rohrborn, G., 1976, Elimination of spontaneous and chemically induced chromosome aberrations in mice during early embryo genesis, Hum. Genet. 33:121–130.

    Google Scholar 

  • Beatty, R. A., 1957, Parthenogenesis and Polyploidy in Mammalian Development, Cambridge University Press, London, p. 52.

    Google Scholar 

  • Beatty, R. A., and Fischberg, M., 1951, Heteroploidy in mammals. I. Spontaneous heteroploidy in pre-implantation mouse eggs, J. Genet. 50:345–359.

    Article  Google Scholar 

  • Beatty, R. A., Lim, M. C., and Coulter, V. J., 1975, A quantitative study of the second meiotic metaphase in male mice, Cytogenet. Cell Genet. 15:256–275.

    Article  Google Scholar 

  • Binkert, F., and Schmid, W., 1977, Pre-implantation embryos of Chinese hamster. I. Incidence of karyotype anomalies in 226 control embryos, Mut. Res. 46:63–75.

    Google Scholar 

  • Boué, J., Boué, A., and Lazar, P., 1975, Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions, Teratology 12:11–26.

    Article  Google Scholar 

  • Chebotar, N. A., 1978, The increase in the frequency of spontaneous chromosome aberrations in mice with increase age, Genetika 14:551–553 (Russian).

    Google Scholar 

  • Donahue, R. P., 1972, Cytogenetic analysis of the first cleavage division in mouse embryos, Proc. Natl. Acad. Sci. 69:74–77.

    Article  Google Scholar 

  • Fabricant, J. D., and Schneider, E. L., 1978, Studies of the genetic and immunologic components of the maternal age effect, Dev. Biol. 66:337–343.

    Article  Google Scholar 

  • Fechheimer, N. S., 1971, Cytogenetic considerations in animal breeding, Ann. Genet. Sel. Anim. 3:43–58.

    Google Scholar 

  • Fechheimer, N. S., and Beatty, R. A., 1974, Chromosomal abnormalities and sex ratio in rabbit blastocysts, J. Reprod. Fertil. 27:331–341.

    Google Scholar 

  • Fraser, L. R., and Maudlin, I., 1978, Relationship between sperm concentration and the incidence of polyspermy in mouse embryos fertilized in vitro, J. Reprod. Fertil. 52:103–106.

    Article  Google Scholar 

  • Fraser, L. R., Zanellotti, H. M., Paton, G. R., and Drury, L. M., 1976, Increased incidence of triploidy in embryos derived from mouse eggs fertilized in vitro, Nature 250:39–40.

    Article  Google Scholar 

  • Fujimoto, S., Pahlavan, N., and Dukelow, W. R., 1974, Chromosome abnormalities in rabbit preimplantation blastocysts induced by superovulation, J. Reprod. Fertil. 40:177–181.

    Article  Google Scholar 

  • Golbus, M. S., Longhman, N. D., Epstein, C. J., Halbason, G., Stephens, J. D., and Hall, B. D., 1979, Prenatal genetic diagnosis in 3000 amniocourses, N. Engl. J. Med. 300:157–163.

    Article  Google Scholar 

  • Goodlin, R. C., 1965, Non-disjunction and maternal age in the mouse, J. Reprod. Fertil. 9:355–356.

    Article  Google Scholar 

  • Gosden, R. G., 1973, Chromosomal anomalies of preimplantation mouse embryos in relation to maternal age, J. Reprod. Fertil. 35:351–354.

    Article  Google Scholar 

  • Hansmann, I., and Probeck, H. D., 1979, Chromosome imbalance in ovulated oocytes from syrian hamsters (Mesocricetus auratus) and Chinese hamsters (Cricetulus grisens), Cytogenet. Cell Genet. 23:70–76.

    Article  Google Scholar 

  • Hassold, T. J., 1978, Cytogenetic studies of successive spontaneous abortions occurring to the same couple, Am. J. Hum. Genet. 30:82A.

    Google Scholar 

  • Hassold, T. J., Matsuyama, A., Newlands, I. M., Matsuura, J. S., Jacobs, P. A., Manuel B., and Tsuei, J., 1978, A cytogenetic study of spontaneous abortions in Hawaii, Ann. Hum. Genet. 41:443–454.

    Article  Google Scholar 

  • Hertig, A. T., Rock, J., Adams, E. C., and Menkin, M. D., 1959, Thirty-four fertilized ova, good, bad, and indifferent, recovered from 210 women of known fertility, Pediatrics 23:202–211.

    Google Scholar 

  • Hofsaess, F. R., and Meacham, T. N., 1971, Chromosome abnormalities of early rabbit embryos, J. Exp. Zool. 177:9–11.

    Article  Google Scholar 

  • Hook, E. B., and Fabia, J. J., 1978, Frequency of Down Syndrome by single year maternal age interval: Results of a Massachusetts study, Teratology, 17:220–223.

    Article  Google Scholar 

  • Hulten, M., and Linsten, J., 1970, The behavior of structural aberrations at male meiosis, in: Human Population Cytogenetics (P. A. Jacobs, W. H. Price, and P. Law, eds.) University of Edinburgh Pfizer Medical Monographs, pp. 24-61.

    Google Scholar 

  • Jacobs, P. A., 1977, Epidemiology of chromosome abnormalities in man, Am J. Epidemiol. 105:180–191.

    Google Scholar 

  • Jacobs, P. A., and Morton, N. E., 1977, Origin of human trisomies and polyploids, Hum. Hered. 27:59–72.

    Article  Google Scholar 

  • Jagiello, G. M., Miller, W. A., Ducayen, M. B., and Lin, J. S., 1974, Chiasma frequency and disjunctional behavior of ewe and cow oocytes matured in vitro, Biol. Reprod. 10:354–363.

    Article  Google Scholar 

  • Kajii, T., 1973, Chromosome anomalies in induced abortions, in: Chromosomal Errors in Relation to Reproductive Failure (A. Boué and C. Thibault, eds.), INSERM, Paris, pp. 57–66.

    Google Scholar 

  • Kajii, T., and Ferrier, A., 1978, Cytogenetics of aborters and abortuses, Am. J. Obstet. Gynecol. 131:33–38.

    Google Scholar 

  • Kajii, T., Ohama, K., and Mikamo, K., 1978, Anatomic and chromosomal anomalies in 944 induced abortuses, Hum. Genet. 43:247–258.

    Article  Google Scholar 

  • Karp, L. E., and Smith, W. D., 1975, Experimental production of aneuploidy in mouse oocytes, Gynecol. Invest. 6:337–341.

    Article  Google Scholar 

  • Kaufman, M. H., 1973, Analysis of the first cleavage division to determine the sex-ratio and incidence of chromosome anomalies to conception in the mouse, J. Reprod. Fertil. 35:67–72.

    Article  Google Scholar 

  • Lauritsen, J. G., 1976, Aetiology of spontaneous abortion. A cytogenetic study of 288 abortuses and their parents, Acta Obstet. Gynecol. Scand. (Suppl.) 52:1–29.

    Article  Google Scholar 

  • Lauritsen, J. G., and Friedrich. U., 1976, Origin of the extra chromosome in trisomy 16, Clin. Genet. 10:156–160.

    Article  Google Scholar 

  • Long, S. E., and Williams, C. V., 1980, Frequency of chromosome abnormalities in early embryos of the domestic sheep (Ovis aries), J. Reprod.Fertil. 58:197–201.

    Article  Google Scholar 

  • Luthardt, F. W., 1976, Cytogenetic analysis of oocytes and early preimplantation embryos from XO mice, Dev. Biol. 54:73–81.

    Article  Google Scholar 

  • McFeely, R. A., 1967, Chromosome abnormalities in early embryos of the pig, J. Reprod. Fertil. 13:579–581.

    Article  Google Scholar 

  • McFeely, R. A., 1975, A review of cytogenetics in equine reproduction, J. Reprod. Fertil. (Suppl.) 23:371–374.

    Google Scholar 

  • McGaughey, R. W., and Polge, C., 1971, Cytogenetic analysis of pig oocytes matured in vitro, J. Exp. Zool. 176:383–395.

    Article  Google Scholar 

  • Martin, P. A., and Shaver, E. L., 1972, Sperm aging in utero and chromosomal anomalies in rabbit blastocysts, Dev. Biol. 28:480–486.

    Article  Google Scholar 

  • Martin, R. H., Dill, F. J., and Miller, J. R., 1976, Nondisjunction in aging female mice, Cytogenet. Cell Genet. 17:150–160.

    Article  Google Scholar 

  • Maudlin, I., and Fraser, L. R., 1977, The effect of PMSG dose on the incidence of chromosomal anomalies in mouse embryos fertilized in vitro, J. Reprod. Fertil. 50; 275–280.

    Article  Google Scholar 

  • Maudlin, I. and Fraser, L. R., 1978a, The effect of sperm and egg genotype on the incidence of chromosome anomalies in mouse embryos fertilized in vitro, J. Reprod. Fertil. 52:107–112.

    Article  Google Scholar 

  • Maudlin, I., and Fraser, L. R., 1978b, Maternal age and the incidence of aneuploidy in firstcleavage mouse embryos, J. Reprod. Fertil. 54:423–426.

    Article  Google Scholar 

  • Moon, R. G., Rashad, M. N., and Mi, M. P., 1975, An example of polyploidy in pig blastocysts, J. Reprod. Fertil. 45:147–149.

    Article  Google Scholar 

  • Mulcahy, M., and Jenkyn, J., 1972, Results of 538 chromosome studies on patients referred for cytogenetic analysis, Med. J. Aust. 2:1333–1338.

    Google Scholar 

  • Pawloitzki, I. H., and Pearson, P. L., 1972, Chromosome aneuploidy in human spermatozoa, Humangenetik 16:119–122.

    Article  Google Scholar 

  • Polani, P. E., and Jagiello, G. M., 1976, Chiasmata, meiotic univalents, and age in relation to aneuploid imbalance in mice, Cytogenet. Cell Genet. 16:505–529.

    Article  Google Scholar 

  • Rohrborn, G., 1972, Frequencies of spontaneous non-disjunction in metaphase II. Oocytes of mice, Humangenetik 16:123–125.

    Article  Google Scholar 

  • Rohrborn, G., Kuhn, O., Hansmann, I., and Thon, K., 1971, Induced chromosome aberrations in early embryogenesis of mice, Humangenetik 11:316–322.

    Article  Google Scholar 

  • Sandler, L., and Hecht, F., 1973, Genetic effects of aneuploidy, Am. J. Hum. Genet. 25:332–339.

    Google Scholar 

  • Shaver, E. L., 1970, The chromosome complement of blastocyts from rabbits injected with various doses of HCG before ovulation, J. Reprod. Fertil. 23:335–337.

    Article  Google Scholar 

  • Shaver, E. L., 1975, Pentobarbitol sodium and cnromosome abnormalities in rabbit blastocysts, Experientia 31:1212–1213.

    Article  Google Scholar 

  • Shaver, E. L., and Carr, D. H., 1967, Chromosome abnormalities in rabbit blastocysts following delayed fertilization, J, Reprod. Fertil. 14:415–420.

    Article  Google Scholar 

  • Shaver, E. L., and Carr, D. H., 1969, The chromosome complement of rabbit blastocysts in relation to the time of mating and ovulation, Can. J. Genet. Cytol. 11:287–293.

    Google Scholar 

  • Skakkebaek, N. E., Bryant, J. I., and Philip, J., 1973, Studies on meiotic chromosomes in infertile men and controls with normal karotypes, J. Reprod. Fertil. 35:23–36.

    Article  Google Scholar 

  • Speed, R. M., 1977, The effects of ageing on the meiotic chromosomes of male and female mice, Chromosoma 64:241–254.

    Article  Google Scholar 

  • Stein, Z., Susser, M, Warburton, D., Wittes, J., and Kline, J., 1975, Spontaneous abortion as a screening device, Am. J. Epidemiol. 102:275–290.

    Google Scholar 

  • Sutherland, G. R., Carter, R. F., Bauld, R., Smith I. I., and Bain, A. D., 1978, Chromosome studies at the paediatric necropsy, Ann. Hum. Genet. 42:173–181.

    Article  Google Scholar 

  • Takagi, N., and Sasaki, M., 1976, Digynic triploidy after superovulation in mice, Nature 264:278–281.

    Article  Google Scholar 

  • Uchida, I. A., and Freeman, C. P. V., 1977, Radiation-induced nondisjunction in oocytes of aged mice, Nature 265:186–187.

    Article  Google Scholar 

  • Vickers, A. D., 1969, Delayed fertilization and chromosomal anomalies in mouse embryos, J. Reprod. Fertil. 20:69–76.

    Article  Google Scholar 

  • Warburton, D., Yu, C., Kline, J., and Stein, Z., 1978, Mosaic autosomal trisomy in cultures from spontaneous abortions, Am. J. Hum. Genet. 30:609–617.

    Google Scholar 

  • Warkaney, J., 1978, Terathanasia, Teratology 17:187–192.

    Google Scholar 

  • Widmeyer, M. A., and Shaver, E.L., 1972, Estrogen, progesterone, and chromosomal abnormalities in rabbit blastocysts, Teratology 6:207–214.

    Article  Google Scholar 

  • Yamamoto, M., and Ingalls, T. H., 1972, Delayed fertilization and chromosome anomalies in the hamster embryo, Science 176:518–521.

    Article  Google Scholar 

  • Yamamoto, M., and Watanabe, G., 1979, Epidemiology of gross chromosomal anomalies at the early embryonic stage of pregnancy. Contr. Epidemiol. Biostat. 1:101.

    Google Scholar 

  • Yamamoto, M., Endo, A., and Watanabe, G., 1973, Maternal age dependence of chromosome anomalies. Nature New Biol. 241:141–142.

    Article  Google Scholar 

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Author information

Authors and Affiliations

  1. Departments of Obstetrics, Gynecology, and Reproductive Sciences and of Pediatrics, University of California Medical Center, San Francisco, California, 94143, USA

    Mitchell S. Golbus

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  1. Mitchell S. Golbus
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Editor information

Editors and Affiliations

  1. University of Pennsylvania, Philadelphia, Pennsylvania, USA

    Luigi Mastroianni Jr.

  2. Harvard Medical School, Boston, Massachusetts, USA

    John D. Biggers

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© 1981 Plenum Press, New York

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Golbus, M.S. (1981). Chromosome Aberrations and Mammalian Reproduction. In: Mastroianni, L., Biggers, J.D. (eds) Fertilization and Embryonic Development In Vitro . Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-4016-4_10

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  • DOI: https://doi.org/10.1007/978-1-4684-4016-4_10

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4684-4018-8

  • Online ISBN: 978-1-4684-4016-4

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