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Human cytogenetics and human chromosome abnormalities

Part 1. Genetics

1.2. Cytogenetics

Introductory Review

  1. Terry Hassold

Published Online: 15 NOV 2005

DOI: 10.1002/047001153X.g102105

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

How to Cite

Hassold, T. 2005. Human cytogenetics and human chromosome abnormalities. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 1:1.2:11.

Author Information

  1. Washington State University, Pullman, WA, USA

Publication History

  1. Published Online: 15 NOV 2005

Abstract

Human cytogenetics is a relatively new field of scientific investigation, with the identification of the first chromosome abnormalities occurring less than 50 years ago. In this section, we review the technical advances that have driven the field, and summarize the different types of chromosome disorders that have been identified in our species.

Keywords:

  • cytogenetics;
  • karyotype;
  • banding;
  • fluorescence in situ hybridization;
  • aneuploidy;
  • trisomy;
  • monosomy;
  • polyploidy;
  • translocation;
  • microdeletion;
  • imprinting