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Advances in cytogenetic diagnosis

Part 1. Genetics

1.6. Genetic Medicine and Clinical Genetics

Specialist Review

  1. Daynna J. Wolff

Published Online: 15 APR 2005

DOI: 10.1002/047001153X.g106210

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

How to Cite

Wolff, D. J. 2005. Advances in cytogenetic diagnosis. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 1:1.6:71.

Author Information

  1. Medical University of South Carolina, Charleston, SC, USA

Publication History

  1. Published Online: 15 APR 2005

Abstract

Clinical cytogenetic diagnosis became established in medical practice when the original genome screen, a karyotype, identified the numerical chromosome abnormalities associated with Down, Turner, and Klinefelter syndromes. Since then, technological advances have propelled the field from the basics of identifying duplications and deletions of large portions of chromosomes to delineating submicroscopic aberrations. Innovations involving fluorescence in situ hybridization (FISH), multicolor chromosome “painting” and comparative genomic hybridization (CGH) have linked the study of chromosomes and molecular sequence data, allowing for a detailed understanding of cytogenetic abnormalities and the associated phenotypes.

Keywords:

  • cytogenetics;
  • fluorescence in situ hybridization (FISH);
  • spectral karyotyping;
  • multiplex-FISH (M-FISH);
  • comparative genomic hybridization (CGH);
  • array CGH