Abstract
The term “mutation” was introduced by de Vries (1901) in describing a sudden and genetically stable change occurring in a plant (Oenothera lamarckiana) that was related to a particular chromosome rearrangement.
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References
Alfi, O. S., Chang, R., and Azen, S. P. 1980. Evidence for genetic control of nondisjunction in man. Am. J. Hum. Genet. 32:477–483.
Atkin, N. B., and Brito-Babapulle, V. 1981. Heterochromatin polymorphism and human cancer. Cancer Genet. Cytogenet. 3:261–272.
Berger, R., Bernheim, A., Leconiat, M., and Vecchione, D. 1979. C-banding studies in various blood disorders. Cancer Genet. Cytogenet. 1:95–102.
Bomsel-Helmreich, O. 1976. Experimental heteroploidy in mammals, in: Developmental Biology and Pathology, A. Gropp and K. Benirschke, eds. Springer, Berlin, pp. 155–175.
Boué, A. 1979. Group Report. European collaborative study on structural chromosome anomalies in prenatal diagnosis, in: Prenatal Diagnosis, J. D. Murken, S. Stengel-Rutkowski, and E. Schwinger, eds. Enke, Stuttgart, pp. 34–46.
Boué, A. 1981. Antenatal diagnosis of chromosome disorders; from research to public health application, in: Abstracts 6th International Congress Human Genetics, Jerusalem, p. 213.
Boué, A., and Boué, J. 1974. Chromosome abnormalities and abortion, in: Physiology and Genetics of Reproduction, E. M. Coutinho and F. Fuchs, eds. Plenum, New York, pp. 317–339.
Boué, A., and Boué, J. 1981. Chromosome structural rearrangements and reproductive failure, in: Chromosomes Today, volume 7, M. D. Bennett, M. Bobrow, and G. M. Hewitt, eds. Allen and Unwin, London, pp. 282–290.
Boué, A., and Gallano, P. 1983. A collaborative study of the segregation of inherited chromosome structural rearrangements in 1556 prenatal diagnosis. Prenatal Diagnosis 3:(in press).
Boué, J., and Boué, A. 1973. Chromosomal analysis of two consecutive abortuses in each of 43 women. Humangenetik 19:275–280.
Boué, J., Boué, A., and Lazar, P. 1975. Retrospective and prospective epidemiological studies of 1500 karyotyped spontaneous human abortions. Teratology 12:11–26.
Boué, J., Daketse, M. J., Deluchat, C., Ravise, N., and Boué, A. 1976a. Identification par les bandes Q et G des anomalies chromosomiques dans les avortements spontanés. Ann. Genet. 19:233–239.
Boué, J., Philippe, E., Giroud, A. and Boué, A. 1976b. Phenotypic expression of lethal chromosomal anomalies in human abortuses. Teratology 14:3–20.
Boué, J., Girard, S., Thepot, F., Choiset, A., and Boué, A. 1982. Unexpected structural chromosome rearrangements in prenatal diagnosis. Prenatal Diag. 2:163–168.
Carr, D. H., and Gedeon, M. 1977. Population cytogenetics of human abortuses, in: Population Cytogenetics. Studies in Humans, E. B. Hook and I. H. Porter, eds. Academic, New York, pp. 1–9.
Carr, D., and Gedeon, M. 1978. Q-banding of chromosomes in human spontaneous abortions. Can. J. Genet. Cytol. 20:415–425.
Chandley, A. C. 1981. The origin of chromosomal aberrations in man and their potential for survival and reproduction in the adult human population. Ann. Genet. 24:5–11.
Couillin, P., Hors, J., Boué, J., and Boué, A. 1978. Identification of the origin of triploidy by HLA markers. Hum. Genet. 41:35–44.
Creasy, M. R., Crolla, J. A., and Alberman, E. D. 1976. A cytogenetic study of human spontaneous abortions using banding techniques. Hum. Genet. 31:177–196.
Crow, J. F., and Kimura, M. 1970. An Introduction to Population Genetic Theory. Harper and Row, New York.
De Grouchy, J. 1981. Towards clinical microcytogenetics: the aniridia and the retinoblastoma stories, in: Abstracts 6th International Congress Human Genetics, Jerusalem. p. 207.
De Vries, H. 1901. Recherches expérimentales sur l‘origine des espèces. Rev. Gen. Bot. 13:5–17.
Dutrillaux, B. 1979. Chromosomal evolution in primates: tentative phylogeny from Microcebus murinus (prosimian) to man. Hum. Genet. 48:251–314.
Fellous, M., and Dausset, J. 1970. Probable haploid expression of HLA antigens on human spermatozoa. Nature 225:191–193.
French, F. E., and Bierman, J. M. 1962. Probabilities of fetal mortality. Public Health Rep. 77:835–847.
Gropp, A., Winking, H., and Putz, B. 1980. Critical points in development of trisomic mouse embryos. Clin. Genet. 17:70.
Gropp, A., Putz, B., and Zimmermann, U. 1976. Autosomal monosomy and trisomy causing developmental failure, in: Developmental Biology and Pathology, Volume 62, Current Topics in Pathology, A. Gropp and E. Benirschke, eds. Springer, Berlin, pp. 177–192.
Hamerton, J. L. 1970. Robertsonian translocation: evidence on segregation from family studies, in: Human Population Cytogenetics, P. A. Jacobs, W. H. Price, and P. Law, eds. Edinburgh University Press, Edinburgh, pp. 64–80.
Hamerton, J. L., Canning, N., Ray, M., and Smith, S. 1975. A cytogenetic survey of 14,069 newborn infants. Incidence of chromosome abnormalities. Clin. Genet. 8:223–243.
Hassold, T. 1980. A cytogenetic study of repeated spontaneous abortions. Am. J. Hum. Genet. 32:723–730.
Hassold, T., Chen, N., Funkhouser, J., Jooss, T., Manuel, B., Matsuura, J., Matsuyama, A., Wilson, C., Yamane, J. A., and Jacobs, P. A. 1980. A cytogenetic study of 1000 spontaneous abortions. Ann. Hum. Genet. 44:151–178.
Hertig, A. T., and Rock, J. 1949. A series of potentially abortive ova recovered from fertile women prior to the first missed menstrual period. Am. J. Obstet. Gynecol. 58:968–993.
Hertig, A. T., and Sheldon, W. H. 1943. Minimal criteria required to prove prima facie case of traumatic abortion or miscarriage. An analysis of 1000 spontaneous abortions. Ann. Surg. 117:596–606.
Hsu, T. C. 1975. A possible function of consecutive heterochromatin: the bodyguard hypothesis. Genetics 79 (suppl.):137–154.
Jacobs, P. A. 1975. The load due to chromosome abnormalities in man, in: The Role of Natural Selection in Human Evolution, F. M. Salzano, ed. North-Holland, Amsterdam, pp. 337–352.
Jacobs, P. A. 1977. Human chromosome heteromorphisms (variants). Prog. Med. Genet. N. S. 2:251–274.
Jacobs, P. A. 1981a. Mutation rates of structural chromosome rearrangements in man. Am. J. Hum. Genet. 33:44–54.
Jacobs, P. A. 1981 b. The origin of chromosome abnormalities in man, in: ChromosomesToday, Volume 7, M. D. Bennett, M. Bobrow, and G. M. Hewitt, eds. Allen and Unwin, London, pp. 271–280.
Jacobs, P. A., and Hassold, T. J. 1980. The origin of chromosome abnormalities in spontaneous abortion, in: Human Embryonic and Fetal Death, I. H. Porter and E. B. Hook, eds. Academic, New York, pp. 288–298.
Jacobs, P. A., Angell, R. R., Buchaman, I. M., Hassold, T. J., Matsuyama, A., and Manuel, B. 1978. The origin of human triploids. Ann. Hum. Genet. 42:49–57.
Jacobs, P. A., Wilson, C. M., Sprenkle, J. A., Rosensheim, N. B., and Migeon, B. R. 1980. Mechanism of origin of complete hydatidiform moles. Nature 286:714–716.
Jacquard, A. 1974. The Genetic Structure of Populations. Springer, Berlin.
Kajii, T., and Niikawa, N. 1977. Origin of triploidy and tetraploidy in man: 11 cases with chromosome markers. Cytogenet. Cell Genet. 18:109–125.
Kajii, T., and Ohama, K. 1977. Androgenetic origin of hydatiform mole. Nature 268:633–634.
Kajii, T., Ferrier, A., Niikawa, N., Takahara, H., Ohama, K., and Avirachan, S. 1980. Anatomic and chromosomal anomalies in 639 spontaneous abortuses. Hum. Genet. 55:87–98.
Kuleshov, N. P. 1976. Chromosome anomalies of infants dying during the perinatal period and premature newborn. Humangenetik 31:151–160.
Lamy, M. L., and Leridon, H. 1981. Les grossesses tardives donnant lieu à une amniocentèse. Population. 1:174–182.
Lauritsen, J. G. 1976. Aetiology of spontaneous abortion. A cytogenetic and epidemiological study of 288 abortuses and their parents. Acta Obstet Gynecol. Scand. Suppl. 52:1–29.
Ledbetter, B. S., Riccardi, V. M., Airhart, S. D., Stobel, R. J., Keenan, B. S., and Crowford, J. D. 1981. Deletion of chromosome 15 as a cause of the Prader-Willi syndrome. N. Engl. J. Med. 304:325–329.
Lender, D., McCaw, B. K., and Hecht, F. 1975. Parthenogenetic origin of benign ovarian teratomas. N. Engl. J. Med. 292:63–66.
Leridon, H. 1977. Human Fertility. The Basic Components. University of Chicago Press, Chicago.
Machin, G. A., and Crolla, J. A. 1974. Chromosome constitution of 500 infants dying during the perinatal period. Humangenetik 23:183–198.
Martin, R. H., Lin, C. C., Balkan, W., and Burns, K. 1982. Direct chromosomal analysis of human spermatozoa: Preliminary results from 15 normal men. A. J. Hum. Genet. 34:459–468.
Masaki, N., Higurashi, M., Iijima, D., Ishikawa, N., Tassaka, F., Fujii, T., Kuroki, Y., Matsui, I., Iinuma, K., Matsuo, N., Takeshita, K., and Hashimoto, S. 1981. Mortality and survival of Down syndrome in Japan. Am. J. Hum. Genet. 33:629–639.
Mattei, J. F., Mattei, M. G., Ayme, S. and Giraud, F. 1979. Origin of the extra chromosome in trisomy 21. Hum. Genet. 46:107–110.
Mikkelsen, M. 1981. Trisomy 21 Down syndrome, in: Abstracts 6th International Congress Human Genetics, ferusalem. p. 330.
Miller, J. F., Williamson, E., and Gene, J. 1980. Fetal loss after implantation. Lancet 1:554–556.
Mirre, C., Hartung, M., and Stahl, A. 1980. Association of ribosomal genes in the fibrillar center of the nucleolus: a factor influencing translocation and nondisjunction in the human meiotic cycle. Proc. Natl. Acad. Sci. USA 77:6017–6020.
Nielsen, J., and Sillesen, I. 1975. Incidence of chromosome aberrations among 11148 newborn children. Humangenetik 30:1–12.
Niikawa, N., Merotto, E., and Kajii, T. 1977. Origin of acrocentric trisomies in spontaneous abortuses. Hum. Genet. 49:73–78.
Ohama, K., Kajii, T., Okamoto, E., Fukuda, Y., Imaizami, K., Tsukahara, M., Kobayashi, K., and Hagiwara, K. 1981. Dispermic origin of XY hydatidiform moles. Nature 292:551–552.
Pearson, P. L., Geraedts, J. P. M., and Pawlowitzki, I. H. 1974. Chromosomal studies on human male gametes, in: Chromosomal Errors in Relation to Reproductive Failure, A. Boué and C. Thibault, eds. INSERM, Paris, pp. 219–229.
Philippe, E. 1974. Histopathologie Placentaire. Masson, Paris.
Philippe, E., and Boué, J. G. 1969. Le placenta des aberrations chromosomiques léthales. Ann. Anat. Pathol. 14:249–266.
Prout, T. 1953. Some effects of variations in the segregation ratio and of selection on the frequency of alleles under random mating. Acta Genet. Stat. Med. IV:148–151.
Riccardi, U. M., Hittner, H. M., Franck, E. U., Yunis, J. J., Ledbetter, V., and Borges, W. 1980. The aniridia-Wilms tumor association: the critical role of chromsome band. Cancer Genet. Cytogenet. 2:131–137.
Schlesselman, J. J. 1979. How does one assess the risk of abnormalities from human in vitro fertilization. Am. J. Obstet. Gynecol. 135:135–148.
Short, R. V. 1979. When a conception fails to become a pregnancy, in: Maternal Recognition of Pregnancy (Ciba Symposium 64). Excerpta Medica, Amsterdam, pp. 377–387.
Surti, U., Szulman, A., and O’Brien, S. 1979. Complete (classic) hydatidiform mole, with 46 XY karyotype of paternal origin. Hum. Genet. 51:153–155.
Sutherland, G. R., Carter, R. F., Baud, R., Smith, I. I., and Bain, A. D. 1978. Chromosome studies at the paediatric necropsy. Ann. Hum. Genet. 42:173–181.
Szulman, A. E., Philippe, E., Boué, J. G., and Boué, A. 1981. Human triploidy: association with partial hydatidiform moles and nonnolar conceptuses. Hum. Pathol. 12:1016–1021.
Therkelsen, A. J., Grunnet, N., Njort, T. , Myhre Jensen, O., Jonasson, J., Lauritsen, J. G., Lenasten, J., and Bruun Petersen, G. 1974. Studies on spontaneous abortion, in: Chromosomal Errors in Relation to Reproductive Failure, A. Boué and C. Thibault, eds. INSERM, Paris, pp. 81–93.
Vogel, F., and Motulsky, A. G. 1979. Human Genetics, Problems and Approaches. Springer, Berlin.
Warburton, D., Stein, Z., Kine, J., and Susser, M. 1980. Chromosome abnormalities in spontaneous abortions: data from the New York City study, in: Human Embryonic and Fetal Death, I. H. Porter and E. B. Hook, eds. Academic, New York, pp. 261–287.
Winking, H., and Gropp, A. 1980. Malsegregation rates and impairment of fertility in single and multiple robertsonian metacentric heterozygotes of the mouse. Clin. Genet. 17:93–94.
Yamamoto, M., and Watanabe, G. 1979. Epidemiology of gross chromosome anomalies at the early embryonic stage of pregnancy. Contrib. Epidemiol. Biostat. 1:101–106.
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Boué, A., Gallano, P., Boué, J., Serre, J.L., Feingold, J. (1983). Genome and Chromosome Mutations Balance Between Appearance and Elimination. In: Kalter, H. (eds) Issues and Reviews in Teratology. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-7311-1_5
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