Human cytogenetics: 46 chromosomes, 46 years and counting

Nat Rev Genet. 2002 Oct;3(10):769-78. doi: 10.1038/nrg905.

Abstract

Human cytogenetics was born in 1956 with the fundamental, but empowering, discovery that normal human cells contain 46 chromosomes. Since then, this field and our understanding of the link between chromosomal defects and disease have grown in spurts that have been fuelled by advances in cytogenetic technology. As a mature enterprise, cytogenetics now informs human genomics, disease and cancer genetics, chromosome evolution and the relationship of nuclear structure to function.

Publication types

  • Historical Article
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Chromosome Aberrations
  • Chromosome Painting / history
  • Chromosomes / genetics*
  • Chromosomes / ultrastructure
  • Cytogenetics / history*
  • Cytogenetics / trends
  • Flow Cytometry / history
  • History, 19th Century
  • History, 20th Century
  • History, 21st Century
  • Humans
  • In Situ Hybridization, Fluorescence / history
  • Karyotyping / methods
  • Nucleic Acid Hybridization