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The visualization of chromosomes

Part 1. Genetics

1.2. Cytogenetics

Introductory Review

  1. Stuart Schwartz

Published Online: 15 JUL 2005

DOI: 10.1002/047001153X.g102114

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

How to Cite

Schwartz, S. 2005. The visualization of chromosomes. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 1:1.2:12.

Author Information

  1. University of Chicago, Chicago, IL, USA

Publication History

  1. Published Online: 15 JUL 2005

Abstract

Chromosomes have been studied for over 100 years, and our methods of visualization have changed and improved over that time. These studies initially involved squash preparations of meiotic chromosomes and have evolved to the eloquent study of high-resolution G-banded chromosomes and most recently to the analysis of BAC arrays to detect small chromosomal changes. During this time, we have learned the true chromosome number in humans as well as a large variety of both aneuploidies and small deletion/duplication syndromes. In this overview, I will review the process underlying the increased visualization of chromosomes, the methodologies leading to the advances and the findings resulting from our increased resolution.

Keywords:

  • chromosome;
  • G-banding;
  • high resolution;
  • fluorescence in situ hybridization;
  • comparative genomic hybridization;
  • BACs;
  • arrays