Microarray-based cytogenetics

Abstract

The field of cytogenetics has experienced many revolutions including hypotonic solution, banding, high-resolution preparation and analysis, and fl uorescence in situ hybridization (FISH). However, none of these advances resulted in the rapid identi fi cation of novel cytogenetic aberrations that microarray analysis has achieved. This chapter will review the various types of genomic microarrays available to identify copy number gains and losses of the genome that result in chromosomal abnormalities. As with any new technology, there are advantages and challenges that accompany innovation. However, even with these challenges, the enormous potential of microarray testing for uncovering the etiologies of intellectual, developmental, and physical disabilities is staggering. While cytogeneticists are accustomed to unusual fi ndings in the laboratory, the amount of data and the interpretive challenge of microarray data were not anticipated. These challenges, as well as the advantages of microarrays, will be explored.