Skip to main content

Human Chromosome Nomenclature

An Overview and Definition of Terms

  • Chapter
The Principles of Clinical Cytogenetics

Abstract

Advancements in methodology and discovery of the diploid human chromosome number invigorated further research in human cytogenetics (1,2). The eventful years that followed witnessed the birth of a new specialty—human cytogenetics—which provided answers to many intriguing phenomena in medicine. Little was known at the time that human cytogenetics would form the backbone of present-day “human genetics,” providing answers to questions regarding human reproduction, behavior, aging, and disease while generating knowledge that could be applied to the treatment and prevention of many disorders.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 159.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Tjio, J.H. and Leven, A. (1956) The chromosome number in man. Hereditas 42, 1–16.

    Article  Google Scholar 

  2. Ford, C.E. and Hamerton, J.L. (1956) The chromosomes of man. Nature 178, 1010–1023.

    Article  Google Scholar 

  3. Denver Conference (1960): A proposed standard system of nomenclature of human mitotic chromosomes. Lancet i, 1063–1065; also reprinted in ref. 4.

    Google Scholar 

  4. Chicago Conference (1966): Standardization in human cytogenetics. Birth Defects: Original Article Series, Vol VIII,No. 2. The National Foundation, New York.

    Google Scholar 

  5. Paris Conference (1971): Standardization in human cytogenetics. Birth Defects Original Article Series, Vol VII,No. 7. The National Foundation, New York, 1972; also in Cytogenetics 11, 313–362.

    Google Scholar 

  6. Paris Conference (1971), Supplement (1975) Standardization in human cytogenetics. Birth Defects Original Article Series, Vol XI,No. 9. The National Foundation, New York, 1975; also in Cytogenet. Cell Genet. 15, 201–238.

    Google Scholar 

  7. ISCN (1978): An international system for human cytogenetic nomenclature. Birth Defects Original Article Series, Vol XIV,No. 8. The National Foundation, New York, 1978; also in Cytogenet. Cell Genet. 21, 309–404.

    Google Scholar 

  8. ISCN (1981): An international system for human cytogenetic nomenclature. Birth Defects Original Article Series, Vol XVII,No. 5. March of Dimes Birth Defects Foundation, New York; also in Cytogenet. Cell Genet. 31, 1–32.

    Google Scholar 

  9. Harnden, D.G. and Klinger, H.P. (eds.) (1985) ISCN (1985): An International System for Human Cytogenetic Nomenclature. Karger, Basel, in collaboration with Cytogenet. Cell Genet.; also in Birth Defects Original Article Series Vol XXI, No. 1. March of Dimes Birth Defects Foundation, New York.

    Google Scholar 

  10. Mitelman, F. (ed.) (1991) ISCN (1991): Guidelines for Cancer Cytogenetics, Supplement to An International System for Human Cytogenetic Nomenclature. Karger, Basel.

    Google Scholar 

  11. Mitelman, F. (ed.) (1995) ISCN (1995): An International System for Human Cytogenetic Nomenclature. Karger, Basel.

    Google Scholar 

  12. London Conference on the normal human karyotype. (1963) Cytogenetics 2, 264–268.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2005 Humana Press Inc., Totowa, NJ

About this chapter

Cite this chapter

Tharapel, A. (2005). Human Chromosome Nomenclature. In: Gersen, S.L., Keagle, M.B. (eds) The Principles of Clinical Cytogenetics. Humana Press, Totowa, NJ. https://doi.org/10.1385/1-59259-833-1:027

Download citation

Publish with us

Policies and ethics