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.
This is a preview of subscription content, log in to check access.
Flemming W. Zellsubstanz, Kern und Zellteilung. Leipzig: Vogel; 1882.Google Scholar
Waldeyer W. Über Karyokineze und ihre Beziehung zu den Befruchtungsvorgängen. Arch Mikr Anat. 1888;32:1.CrossRefGoogle Scholar
Waardenburg PJ. Mongolismus (Mongoloid Idiotie). In Das menschliche Auge und seine Erbanlagen. Bibliogr. Genet. 1932;7:44–48.Google Scholar
Lejeune J, Gautier M, Turpin R. Étude des chromosomes somatiques de neuf enfants mongoliens. C R Acad Sci. 1959;248:1721–2.Google Scholar
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
Jacobs PA, Strong JA. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature. 1959;183:302–3.PubMedCrossRefGoogle Scholar
Jacobs PA, Baikie AG, MacGregor TN, Harnden DG. Evidence for the existence of the human “superfemale”. Lancet. 1959;II:423–5.CrossRefGoogle Scholar
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
Rowley JD. Identification of a translocation with quinacrine fluorescence in a patient with acute leukemia. Ann Genet. 1973;16:109.PubMedGoogle Scholar
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
Mitelman F. Catalog of chromosome aberrations in cancer. Basel: Karger; 1983.Google Scholar