Human cytogenetics: 46 chromosomes, 46 years and counting
- 1 October 2002
- journal article
- Published by Springer Nature in Nature Reviews Genetics
- Vol. 3 (10) , 769-778
- https://doi.org/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.Keywords
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