Review
Nature Reviews Genetics 3, 769-778 (October 2002) | doi:10.1038/nrg905
Subject Category: Human genetics and disease
Focus on: Human Genetics and Diseases
Human genetics and disease: Human cytogenetics: 46 chromosomes, 46 years and counting
Barbara J. Trask1 About the author
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.
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Author affiliations
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Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.
Email: btrask@fhcrc.org
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