Karyotyping as the first genomic approach

Abstract Cytogenetics represents one of the first methodologies to observe the totality of the human genome. For more than 50 years, the identification of rare chromosomal disorders has been a major application of this approach. Today, chromosome analysis is still an important diagnostic procedure in numerous areas of clinical medicine, and modern technical advances have allowed for increasing resolution and precision at both the chromosomal and genomic levels. In this chapter, we explore mechanisms of abnormalities that illustrate the major categories of chromosomal disorders, discuss any recent improvements in their detection, and review common indications for cytogenetic studies.