Summary
Interchange segment sizes and the sizes of chromosome imbalance arising from the different modes of meiotic segregation were measured in a selected sample of 20 reciprocal translocations (Rcp). The Rcp were selected by two modes of ascertainment: (I) neonates with an unbalanced form of the translocation, and (II) couples with recurrent spontaneous abortions without evidence of full-term translocation aneuploid offspring.
The measurements (% of haploid autosomal length: %HAL) were plotted as the observed or potential chromosomal imbalance with monosomy (abscissa) and trisomy (ordinate). It was found that (a) the interchange segments were larger in the spontaneous abortion Rcp, (b) that all of the imbalances observed in full-term neonates plotted close to the origin and to the left of the line joining 4% trisomy to 2% monosomy, and (c) the imbalances observed in the neonates in each individual Rcp were of the smallest size possible arising by any segregation mode.
It was concluded that a major factor in the survival to term of aneuploid conceptuses is the size (proportion of genome) of the chromosome abnormality, irrespective of the origin of the chromosome regions. These results are discussed in relation to their use as a model to evaluate the risk of abnormal offspring in the progeny of translocation heterozygotes (the Chromosome Imbalance Size-Viability Model).
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Braden, A. W. H.: Influence of time of mating on the segregation ratio of alleles at the T locus in the house mouse. Nature 181, 786–787 (1958)
Brøgger, A.: Translocation in human chromosomes. In: Norwegian monographs on medical science, pp. 58–67. Oslo: Universitetsforlaget 1967
Burnham, C. R.: Chromosome segregation in translocations involving chromosome 6 in maize. Genetics 35, 446–481 (1950)
Carr, D. H., Gedeon, M.: Population cytogenetics of human abortuses. In: Population cytogenetics-— studies in humans, E. B. Hook, I. H. Porter (eds.), pp. 1–9. New York: Academic Press 1977
Chandley, A. C., Christie, S., Fletcher, J., Frackiewicz, A., Jacobs, P. A.: Translocation heterozygosity and associated subfertility in man. Cytogenetics 11, 516–533 (1972)
Chandley, A. C., Seuánez, H., Fletcher, J. M.: Meiotic behaviour of five human reciprocal translocations. Cytogenet. Cell Genet. 17, 98–111 (1976)
Cure, S., Boué, J., Boué, A.: Growth characteristics of human embryonic cell lines with chromosomal anomalies. Biomedicine 21, 233–236 (1974)
Ford, C. E., Clegg, H. M.: Reciprocal translocations. Br. Med. Bull. 25, 110–114 (1969)
Fried, K., Perpinyal, S., Rosenblatt, M., Caspi, E.: Familial balanced reciprocal translocation t(1;16)(q12;p13) ascertained because of multiple abortions in a carrier. Hum. Hered. 27, 362–365 (1977)
Hamerton, J. L.: Human cytogenetics, Vol. I. General cytogenetics. New York: Academic Press 1970
Jacobs, P. A., Buckton, K. E., Cunningham, C., Newton, M.: An analysis of the break points of structural rearrangements in man. J. Med. Genet. 11, 50–64 (1974)
Jones, K. L., Smith, D. W.: Recognition of fetal alcohol syndrome in early infancy. Lancet 1973 II, 999
Jones, K. L., Smith, D. W., Vileland, C. N., Streissguth, A. P.: Pattern of malformation in offspring of the chronic alcoholic mother. Lancet 1973I, 1267
Kajii, T., Ohama, K., Niikawa, N., Ferrier, A., Avirachan, S.: Banding analysis of abnormal karyotypes in spontaneous abortion. Am. J. Hum. Genet. 25, 539–547 (1973)
Kajii, T., Meylan, J., Mikamo, K.: Chromosome anomalies in three successive abortuses due to paternal translocation t(13q-;18q+). Cytogenet. Cell Genet. 13, 426–436 (1974)
Korner, H., Agricola, H., Bayer, H.: Translocation t(7p+;13q-) associated with recurrent abortion. Humangenetik 28, 83–86 (1975)
Leisti, J.: Structural variation in human mitotic chromosomes. Ann. Acad. Sci. Fenn. [Biol.] 179, 1–69 (1971)
Lejeune, J., Dutrillaux, B., Grouchy, J. de: Reciprocal translocations in human populations. A preliminary analysis. In: Human population cytogenetics, P. A. Jacobs, W. H. Price, and P. Law (eds.), pp. 81–87. Edinburgh: University of Edinburgh Press 1970
Lewis, K. R., John, B.: Spontaneous interchange in Chorthippus brunneus. Chromosoma 14, 618–637 (1963)
Lindenbaum, R. H., Bobrow, M.: Reciprocal translocations in man. 3:1 meiotic disjunction resulting in 47- or 45- chromosome offspring. J. Med. Genet. 12, 29–43 (1975)
Lindsley, D. L., Sandler, L.: Segmental aneuploidy and the genetic gross structure of the Drosophila genome. Genetics 71, 157–184 (1972)
Lucas, M., Wallace, I., Hirschhorn, K.: Recurrent abortions and chromosome abnormalities. J. Obstet. Gynaecol. Br. Clth 79, 1119–1127 (1972)
McLintock, B.: Neurospora. I. Preliminary observations of the chromosomes of Neurospora crassa. J. Bot. 32, 671–678 (1945)
Mark, H. L. F., Zimmering, S.: Centromeric effect on the degree of nonrandom disjunctio in the female Drosophila melanogaster. Genetics 86, 121–132 (1977)
Miklos, G. L. G.: Sex chromosome pairing and male fertility. Cytogenet. Cell Genet. 13, 558–577 (1974)
Miller, J. R., Yasuda, M.: Environmental factors in the aetiology of congenital malformations in man. In: Modern trends in human genetics, Vol. 2, A. E. H. Emery (ed.), pp. 308–336 London: Butterworths 1975
Newton, M. E., Wood, R. J., Southern, D. I.: A cytogenetic analysis of meiotic drive in the mosquito, Aedes aegypti (L). Genetica 46, 297–318 (1976)
Nielsen, J., Rasmussen, K.: Autosomal reciprocal translocations and 13/14 translocations: A population study. Clin. Genet. 10, 161–177 (1976)
Novitski, E., Sandler, L.: Are all products of spermatogenesis regularly functional? Proc. Natl. Acad. Sci. (USA) 43, 318–324 (1957)
Paris Conference (1971): Standardization in human cytogenetics. Birth Defects: Original Article Series VIII: 7, 1972. The National Foundation, New York
Peacock, W. J., Erickson, J.: Segregation—distortion and regularly nonfunctional products of spermatogenesis in Drosophila melanogaster. Genetics 51, 313–328 (1965)
Peacock, W. J., Tokuyasu, K., Hardy, R. W.: Spermiogenesis and meiotic drive in Drosophila. In: The genetics of the spermatozoon (R. A. Beatty, S. Glueckson-Waelsh, eds.). Proc. Int. Symp. 247–268 (1972)
Rees, H., Sun, S.: Chiasma frequency and the disjunction of interchange associations in Rye. Chromosoma 16, 500–510 (1965)
Rhoades, M. M., Dempsey, E.: The effect of chromosome 10 on preferential segregation and crossing over in maize. Genetics 53, 989–1020 (1966)
Rickards, G. K.: Some theoretical aspects of selective segregation in interchange complexes. Chromosoma 15, 140–155 (1965)
Singh-Kahlon, D. P., Serra, A.: Familial C/D translocation t(9;13)(p23;q21) in a male associated with recurrent abortion. Hum. Genet. 33, 223–230 (1976)
Stoll, C., Levy, J. M., Champy, M.: Balanced familial translocation t(5;19)(q12;p or q11) with phenotypical abnormalities in a girl. Personal communication (1975a)
Stoll, C., Renaud, R., Warter, S.: Avortements spontanes précoces iteratifs et translocation t(5;9)(p11;q33) familiale. Lyon Med 233, 307–309 (1975b)
Sybenga, J.: Orientation of interchange multiples in Secale cereale. Heredity 23, 73–79 (1968)
Taylor, A. I.: Autosomal trisomy syndromes. A detailed study of 27 cases of Patau's. J. Med. Genet. 5, 227–252
Tenchini, S. L., Montali, E., Simoni, G., Nuzzo, F.: 3/4 reciprocal translocation in two unrelated families. Hum. Genet. 37, 235–238 (1977)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Daniel, A. Structural differences in reciprocal translocations. Hum Genet 51, 171–182 (1979). https://doi.org/10.1007/BF00287173
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00287173