Summary
A balanced carrier of a 13/13 translocation had the karyotype 45,t(13q13q) in several tissues sampled (blood, skin from three sites, and three abdominal structures). On the basis of absence of mosaicism in this and the other reported balanced homologous Robertsonian translocation carriers, it is suggested the translocation occurred immediately after fertilization.
Zusammenfassung
Ein balancierter Träger einer 13/13-Translokation hat den Karyotyp 45,t(13q13q) in verschiedenen untersuchten Geweben (Blut, Haut von drei verschiedenen Stellen, Gewebe von drei verschiedenen Bauchorganen). Nachdem bei diesem und anderen Trägern einer balancierten homologenen Robertsonschen Translokation ein Mosaik ausgeschlossen erscheint, wird angenommen, daß die Translokation sich unmittelbar nach der Befruchtung ereignet hat.
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References
Capoa, A. de, Miller, O. J., Mukherjee, B. B., Warburton, D.: Autoradiographic studies on a mother and aborted foetus from a family with four mongoloid children and a presumptive 21/21 translocation. Ann. hum. Genet. 31, 243–253 (1968)
Caspersson, T., Zech, L., Lindsten, J.: Identification of human chromosomes by fluorescence techniques. Triangle (En.) 11, 73–80 (1972)
Dallaire, L., Fraser, F. C.: Two unusual cases of familial mongolism. Canad. J. Genet. Cytol. 6, 540–547 (1964)
Forssman, H., Lehmann, O.: Chromosome studies in eleven families with mongolism in more than one member. Acta paediat. 51, 180–188 (1962)
Greyerz-Gloor, R. D. von, Auf der Maur, P., Bergemann, E.: Zytogenetische und phänomenologische Untersuchungen and 272 Mongoloiden des Kantons Bern. Schweiz. med. Wschr. 99, 1151–1156 (1969)
Hamerton, J. L., Briggs, S. M., Giannelli, F., Carter, C. O.: Chromosome studies in detection of parents with high risk of second child with Down's syndrome. Lancet 1961 II, 788–791
Hirschhorn, K., Lucas, M., Wallace, I.: Precise identification of various chromosome abnormalities. Ann. hum. Genet. 36, 375–379 (1973)
Lawton, S. B., Stoddard, G. R., Seely, J. R.: Familial 21/21 translocation. J. Pediat. 74, 305–309 (1969)
Lucas, M.: Translocation between both members of chromosome pair number 15 causing recurrent abortions. Ann. hum. Genet. 32, 347–352 (1969)
Lucas, M., Wallace, I., Hirschhorn, K.: Recurrent abortions and chromosome abnormalities. J. Obstet. Gynaec. Brit. Cwlth 79, 1119–1127 (1972)
Niebuhr, E.: Dicentric and monocentric Robertsonian translocations in man. Humangenetik 16, 217–226 (1972)
Niebuhr, E.: Personal communication (1973)
Parslow, M. I., Gardner, R. J. M., Veale, A. M. O.: Giemsa banding in the t(13q13q) carrier mother of a translocation trisomy 13 abortus. Humangenetik 18, 183–184 (1973)
Polani, P. E., Hamerton, J. L., Giannelli, F., Carter, C. O.: Cytogenetics of Down's syndrome (mongolism). III. Frequency of interchange trisomics and mutation rate of chromosome interchanges. Cytogenetics 4, 193–206 (1965)
Yoshida, M. C., Nomoto, N., Sasaki, M.: Quinacrine fluorescence patterns in somatic chromosomes of a t(15q15q) carrier. Humangenetik 15, 66–70 (1972)
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New Zealand Medical Research Council Training Fellow.
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Gardner, R.J.M., Parslow, M.I. & Veale, A.M.O. The formation of the abnormal chromosome in balanced homologous Robertsonian translocation carriers. Hum Genet 21, 279–282 (1974). https://doi.org/10.1007/BF00279023
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DOI: https://doi.org/10.1007/BF00279023