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History of Clinical Cytogenetics

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The Principles of Clinical Cytogenetics

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Abstract

The beginning of human cytogenetics is generally attributed to Walther Flemming, an Austrian cytologist and professor of anatomy, who published the first illustrations of human chromosomes in 1882. Flemming also referred to the stainable portion of the nucleus as chromatin and first used the term mitosis (1). In 1888, Waldeyer introduced the word chromosome, from the Greek words for “colored body” (2), and several prominent scientists of the day began to formulate the idea that determinants of heredity were carried on chromosomes. After the “rediscovery” of Mendelian inheritance in 1900, Sutton (and, independently at around the same time, Boveri) formally developed a “chromosome theory of inheritance” (3,4). Sutton combined the disciplines of cytology and genetics when he referred to the study of chromosomes as cytogenetics.

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Authors and Affiliations

  1. AmeriPath Inc., USA

    Steven L. Gersen PhD

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  1. Steven L. Gersen PhD
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Editors and Affiliations

  1. AmeriPath Inc., USA

    Steven L. Gersen PhD

  2. School of Allied Health Professions, University of Connecticut, Storrs, CT

    Martha B. Keagle MEd

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© 2005 Humana Press Inc., Totowa, NJ

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Gersen, S.L. (2005). History of Clinical Cytogenetics. In: Gersen, S.L., Keagle, M.B. (eds) The Principles of Clinical Cytogenetics. Humana Press, Totowa, NJ. https://doi.org/10.1385/1-59259-833-1:003

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