History of Clinical Cytogenetics

  • Steven L. Gersen


The normal diploid number of chromosomes in man was reported in 1956. The first constitutional chromosome abnormalities were discovered 3 years later, and the first association between an abnormal karyotype and cancer was reported a year after that. However, it was not until the late 1960s and early 1970s, when banding methods facilitated definitive identification of each chromosome pair, that the field of clinical cytogenetics truly emerged. In the decades that have followed, chromosome analysis, either through the light microscope, via fluorescence in situ hybridization, or by microarray, has become an integral part of the diagnosis and/or prognosis of an ever-increasing list of syndromes and neoplasms.


Down Syndrome Turner Syndrome Philadelphia Chromosome Klinefelter Syndrome Bloom Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. 1.
    Flemming W. Zellsubstanz, Kern und Zellteilung. Leipzig: Vogel; 1882.Google Scholar
  2. 2.
    Waldeyer W. Über Karyokineze und ihre Beziehung zu den Befruchtungsvorgängen. Arch Mikr Anat. 1888;32:1.CrossRefGoogle Scholar
  3. 3.
    Sutton WS. The chromosomes in heredity. Biol Bull Wood’s Hole. 1903;4:231.CrossRefGoogle Scholar
  4. 4.
    Boveri T. Über mehrpolige Mitosen als Mittel zur Analyse des Zellkerns. Verh Phys-med Ges Würzburg NF. 1902;35:67–90.Google Scholar
  5. 5.
    Winiwarter H. Études sur la spermatogenèse humaine. I. Cellule de Sertoli. II. Hétérochromosome et mitoses de l’epitheleum seminal. Arch Biol (Liege). 1912;27:91–189.Google Scholar
  6. 6.
    Painter TS. Studies in mammalian spermatogenesis. II. The spermatogenesis of man. J Exp Zool. 1923;37:291–336.CrossRefGoogle Scholar
  7. 7.
    Levitsky GA. Materielle Grundlagen der Vererbung. Kiew: Staatsverlag; 1924.Google Scholar
  8. 8.
    Fisher A. Biology of tissue cells. Cambridge: Cambridge University Press; 1946.Google Scholar
  9. 9.
    Hsu TC. Mammalian Chromosomes in vitro. I. The karyotype of man. J Hered. 1952;43:167–72.Google Scholar
  10. 10.
    Hsu TC, Pomerat CM. Mammalian chromosomes in vitro. II. A method for spreading the chromosomes of cells in tissue culture. J Hered. 1953;44:23–9.Google Scholar
  11. 11.
    Ford CE, Hamerton JL. A colchicine, hypotonic citrate, squash sequence for mammalian chromosomes. Stain Technol. 1956;31:247.PubMedGoogle Scholar
  12. 12.
    Tjio HJ, Levan A. The chromosome numbers of man. Hereditas. 1956;42:1–6.CrossRefGoogle Scholar
  13. 13.
    Ford CE, Hamerton JL. The chromosomes of man. Nature. 1956;178:1020–3.PubMedCrossRefGoogle Scholar
  14. 14.
    Waardenburg PJ. Mongolismus (Mongoloid Idiotie). In Das menschliche Auge und seine Erbanlagen. Bibliogr. Genet. 1932;7:44–48.Google Scholar
  15. 15.
    Lejeune J, Gautier M, Turpin R. Étude des chromosomes somatiques de neuf enfants mongoliens. C R Acad Sci. 1959;248:1721–2.Google Scholar
  16. 16.
    Ford CE, Miller OJ, Polani PE, de Almeida JC, Briggs JH. A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner’s syndrome). Lancet. 1959;I:711–3.CrossRefGoogle Scholar
  17. 17.
    Jacobs PA, Strong JA. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature. 1959;183:302–3.PubMedCrossRefGoogle Scholar
  18. 18.
    Jacobs PA, Baikie AG, MacGregor TN, Harnden DG. Evidence for the existence of the human “superfemale”. Lancet. 1959;II:423–5.CrossRefGoogle Scholar
  19. 19.
    Barr ML, Bertram LF. A morphological distinction between neurons of the male and the female and the behavior of the nucleolar satellite during accelerated nucleoprotein synthesis. Nature. 1949;163:676–7.PubMedCrossRefGoogle Scholar
  20. 20.
    Lyon MF. Gene action in the X-chromosome of the mouse. Nature. 1961;190:372–3.PubMedCrossRefGoogle Scholar
  21. 21.
    Patau K, Smith DW, Therman E, Inhorn SL. Multiple congenital anomaly caused by an extra chromosome. Lancet. 1960;I:790–3.CrossRefGoogle Scholar
  22. 22.
    Edwards JH, Harnden DG, Cameron AH, Cross VM, Wolff OH. A new trisomic syndrome. Lancet. 1960;I:711–3.Google Scholar
  23. 23.
    Nowell PC, Hungerford DA. A minute chromosome in human chronic granulocytic leukemia. Science. 1960;132:1497.Google Scholar
  24. 24.
    Nowell PC, Hungerford DA. Chromosome studies on normal and leukemic human leukocytes. J Nat Cancer Inst. 1960;25:85–109.PubMedGoogle Scholar
  25. 25.
    Nowell PC, Hungerford DA. Chromosome studies in human leukemia II. Chronic granulocytic leukemia. J Nat Cancer Inst. 1961;27:1013–35.PubMedGoogle Scholar
  26. 26.
    Lejeune J, Lafourcade J, Berger R, et al. Trois cas de délétion partielle du bras court d’un chromosome 5. C R Acad Sci (Paris). 1963;257:3098–102.Google Scholar
  27. 27.
    Lejeune J, Lafourcade J, de Grouchy J, et al. Délétion partielle du bras court du chromosome 5. Individualisation d’un nouvel état morbide. Sem Hôp Paris. 1964;18:1069–79.Google Scholar
  28. 28.
    Jacobs PA, Brunton M, Melville MM, Brittain RP, McClermont WF. Aggressive behavior, mental subnormality and the XYY male. Nature. 1965;208:1351–2.PubMedCrossRefGoogle Scholar
  29. 29.
    Schroeder TM, Anschütz F, Knopp F. Spontane chromosomenaberrationen bei familiärer Panmyelopathie. Hum Genet. 1964;I:194–6.CrossRefGoogle Scholar
  30. 30.
    German J, Archibald R, Bloom D. Chromosomal breakage in a rare and probably genetically determined syndrome of man. Science. 1965;148:506.PubMedCrossRefGoogle Scholar
  31. 31.
    Nowell PC. Phytohaemagglutinin: an initiator of mitosis in cultures of normal human leukocytes. Cancer Res. 1960;20:462–6.PubMedGoogle Scholar
  32. 32.
    Caspersson T, Farber S, Foley GE, et al. Chemical differentiation along metaphase chromosomes. Exp Cell Res. 1968;49:219–22.PubMedCrossRefGoogle Scholar
  33. 33.
    Caspersson T, Zech L, Johansson C. Differential binding of alkylating fluorochromes in human chromosomes. Exp Cell Res. 1970;60:315–9.PubMedCrossRefGoogle Scholar
  34. 34.
    Caspersson T, Lomakka G, Zech L. The 24 fluorescence patterns of the human metaphase chromosomes – distinguishing characters and variability. Hereditas. 1971;67:89–102.CrossRefGoogle Scholar
  35. 35.
    Drets ME, Shaw MW. Specific banding patterns in human chromosomes. Proc Natl Acad Sci USA. 1971;68:2073–7.PubMedCrossRefGoogle Scholar
  36. 36.
    Rowley JD. Identification of a translocation with quinacrine fluorescence in a patient with acute leukemia. Ann Genet. 1973;16:109.PubMedGoogle Scholar
  37. 37.
    Rowley JD. Letter: a new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining. Nature. 1973;243(5405):290–3.PubMedCrossRefGoogle Scholar
  38. 38.
    Mitelman F. Catalog of chromosome aberrations in cancer. Basel: Karger; 1983.Google Scholar
  39. 39.
  40. 40.
    Rebolloso F, editor. 1997–1998 AGT international laboratory directory. Lenexa: Association of Genetic Technologists; 1998.Google Scholar
  41. 41.
    Rebolloso F, editor. 2003 AGT international laboratory directory. Lenexa: Association of Genetic Technologists; 2003.Google Scholar

Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  1. 1.Cytogenetics LaboratoryAmeriPath NortheastSheltonUSA

Personalised recommendations