The Principles of Clinical Cytogenetics - Extra Materials - Springer

History of Clinical Cytogenetics 7
Fig. 2. The first photograph of a Q-banded cell published by Caspersson and co-workers in 1970. The figure
was originally labeled “Quinacrine mustard treated human metaphase chromosomes (male) from leukocyte
culture. Fluorescence microscope. ×2000.” (Reprinted from ref. 31 with permission from Elsevier.)
exciting development and the many innovative procedures derived from it have created even more
interest in the human karyotype.
This brings us to the present. More than 1 million cytogenetic and molecular cytogenetic analyses
are now performed annually in over 400 laboratories worldwide (34,35), and this testing is now often
the standard of care. Pregnant women over the age of 35 or those with certain serum-screening results
are routinely offered prenatal cytogenetic analysis, and many also have prenatal ploidy analysis via
FISH. For children with phenotypic and/or mental difficulties and for couples experiencing reproductive
problems, cytogenetics has become a routine part of their clinical work-up, and FISH has
permitted us to visualize changes that are too subtle to be detected with standard chromosome analysis.
Cytogenetics and FISH also provide information vital to the diagnosis, prognosis, therapy, and
monitoring of treatment for a variety of cancers.
It was really not so long ago that we had 48 chromosomes. One has to wonder whether Flemming,
Waldeyer, Tjio, Levan, Hsu, or Lejeune could have predicted the modern widespread clinical use of
chromosome analysis. However, perhaps it is even more exciting to wonder what lies ahead for
medical cytogenetics and molecular cytogenetics now that we have entered the 21st century.
REFERENCES
1. Flemming, W. (1882) In Zellsubstanz, Kern und Zellteilung. Vogel, Leipzig.
2. Waldeyer, W. (1888) Über Karyokineze und ihre Beziehung zu den Befruchtungsvorgängen. Arch. Mikr. Anat. 32, 1.
3. Sutton, W.S. (1903) The chromosomes in heredity. Biol. Bull. Wood’s Hole 4, 231.
4. Boveri, T. (1902) Über mehrpolige Mitosen als Mittel zur Analyse des Zellkerns. Verh. Phys-med. Ges. (Würzburg,
N.F.) 35, 67–90.
5. Von Winiwarter, H. (1912) Études sur la spermatogenèse humaine. I. Cellule de Sertoli. II. Hétérochromosome et
mitoses de l’epitheleum seminal. Arch. Biol. (Liege) 27, 91–189.
6. Painter, T.S. (1923) Studies in mammalian spermatogenesis. II. The spermatogenesis of man. J. Exp. Zool. 37, 291–336.
7. Levitsky G.A. (1924) Materielle Grundlagen der Vererbung. Staatsverlag, Kiew.
8. Fisher, A. (1946) Biology of Tissue Cells. Cambridge University Press, Cambridge.