Advances in cytogenetic diagnosis
Part 1. Genetics
1.6. Genetic Medicine and Clinical Genetics
Published Online: 15 APR 2005
Copyright © 2005 John Wiley & Sons, Ltd
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.
- Published Online: 15 APR 2005
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.
- fluorescence in situ hybridization (FISH);
- spectral karyotyping;
- multiplex-FISH (M-FISH);
- comparative genomic hybridization (CGH);
- array CGH