European Journal of Pediatrics

, Volume 126, Issue 4, pp 203–209 | Cite as

Delineation of robertsonian translocations in man by means of chromosome banding

  • Fontaine S. HillJr.
  • Robert L. Summitt
Original Investigations


Robertsonian translocations from thirteen unrelated individuals were studied by G, Q and C banding, and by autoradiography. Each of three D-D translocations involved chromosomes 13 and 14, all four D-G translocations involved chromosomes 14 and 21, and five of six G-G translocations involved two chromosomes 21 while the sixth involved 21 and 22. Two centromeres were noted in a single 21-21 translocation chromosome by C banding. Autoradiography was much less useful in identifying the chromosomes involved in the thirteen translocations. G and Q banding were consistently accurate.

Key words

Chromosomes Chromosome abnormalities Translocation Robertsonian translocation Down's syndrome 13-Trisomy syndrome 


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  1. Buckton, K. E.: The identification of whole chromosomes or parts of chromosomes by the new banding techniques. In: Chromosome identification — technique and applications in biology and medicine (eds., T. Caspersson, L. Zech), p. 196. New York: Academic Press 1973Google Scholar
  2. Caspersson, T., Zech, L., Johansson, C., Modest, E. J.: Identification of human chromosomes by DNA-binding fluorescent agents. Chromosoma 30, 215 (1970)Google Scholar
  3. Caspersson, T., Hulten, M., Lindsten, J., Therkelsen, A. J., Zech, L.: Identification of different Robertsonian translocations in man by quinacrine mustard fluorescence analysis. Hereditas 67, 213 (1971)Google Scholar
  4. Cohen, M. M.: The chromosomal constitution of 165 human translocations involving D group chromosomes identified by autoradiography. Ann. Genet. 14, 87 (1971)Google Scholar
  5. Fraccaro, M., Kaijser, K., Lindsten, J.: Chromosomal abnormalities in father and mongol child. Lancet 1960I, 724Google Scholar
  6. Giraud, F., Mattei, J.-F.: Aspects épidémiologiques de la trisomie 21. C. R. 3èmes Journées Européennes de Conseil génétique. Suppl. vol. 23, J. Génét. hum. (Genève), Oct. 1975, pp. 1–30Google Scholar
  7. Hamerton, J. L.: Cytogenetics of mongolism. In: Chromosomes in medicine (ed., J. L. Hamerton), pp. 140–183. London: Wm. Heineman, Ltd. 1962Google Scholar
  8. Hamerton, J. L.: Robertsonian translocations in man: Evidence for prezygotic selection. Cytogenetics 7, 260 (1968)Google Scholar
  9. Hamerton, J. L.: Human Cytogenetics, Vol. 1. New York: Academic Press 1971Google Scholar
  10. Hamerton, J. L.: Human Cytogenetics, Vol. II. New York: Academic Press 1971aGoogle Scholar
  11. Hecht, F., Case, M. P., Lovrien, E. W., Higgins, S. V., Thuline, H. D., Melnyk, Jr.: Non-randomness of translocations in man: preferential entry of chromosomes in 13–15/21 translocations. Science 161, 371 (1968)Google Scholar
  12. Hirschhorn, K., Lucas, M., Wallace, I.: Precise identification of various chromosomal abnormalities. Ann. Human Genet. 36, 375 (1973)Google Scholar
  13. Lejeune, J., Turpin, R., DeCourt, J.: Aberrations chromosomiques et malades humaines. Syndrome de Klinifelter XXY à 46 chromosomes par fusion centromerique T-T. C. R. Acad. Sci. 250, 2468 (1960)Google Scholar
  14. Lubs, H. A., McKenzie, W. H., Patil, S. R., Merrick, S.: New staining methods for chromosomes. In: Methods in cell biology (ed. D. M. Prescott), Vol. 6, 345. New York-London: Academic Press 1973Google Scholar
  15. McKenzie, W. H., Lubs, H. A.: An analysis of the technical variables in the production of C bands. Chromosoma 41, 175 (1973)Google Scholar
  16. Mikkelsen, M.: Identification of G group anomalies in Down's syndrome by quinacrine dihydrochloride fluorescence staining. Humangenetik 12, 67 (1971)Google Scholar
  17. Niebuhr, E.: Dicentric and monocentric Robertsonian translocations in man. Humangenetik 16, 217 (1972)Google Scholar
  18. Polani, P. E., Briggs, J. H., Ford, C. E., Clarke, C. M., Berg, J. M.: A mongol girl with 46 chromosomes. Lancet 1960I, 721Google Scholar
  19. Schmid, W., Carnes, J.: Autoradiography of human chromosomes. In: Human chromosome methodology (ed. J. J. Yunis), p. 91. New York: Academic Press 1965Google Scholar
  20. Sumner, A. T., Evans, H. J., Buckland, R. A.: New technique for distinguishing between human chromosomes. Nature, New Biology 232, 31 (1971)Google Scholar

Copyright information

© Springer-Verlag 1977

Authors and Affiliations

  • Fontaine S. HillJr.
    • 1
  • Robert L. Summitt
    • 2
    • 3
  1. 1.Department of BiologyMemphis State UniversityMemphisUSA
  2. 2.Departments of Pediatrics and AnatomyUniversity of Tennessee Center for the Health SciencesMemphisUSA
  3. 3.the Child Development CenterUniversity of Tennessee Center for the Health SciencesMemphisUSA

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