Primer on medical genomics. Part XI: Visualizing human chromosomes.

Abstract

In the past century, various methods to visualize human chromosomes were discovered. Chromosome analyses provide an overall view of the human genome that cannot be achieved with any other approach. The methods to visualize chromosomes include various techniques to produce bands along chromosomes, specialized procedures for specific disorders, and fluorescent-labeled DNA for targeted loci. Cytogenetic methods guide the study of the relationship between chromosome structure and gene function. They also aid in mapping locations of genes and identifying chromosome anomalies associated with medical disorders. The clinical diagnosis, prognosis, and response to treatment can be established for many malignant diseases. Cytogenetic methods provide an important diagnostic tool for clinical practice.