Human cytogenetics: 46 chromosomes, 46 years and counting
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Updated: Sep 29, 2026

Chromosome Preparation From Cultured Cells
Published on: January 28, 2014
1Division of Human Biology, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA. btrask@fhcrc.org
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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