Cytogenetics: an overview

Abstract

Cytogenetics is the study of chromosome morphology, structure, pathology, function, and behavior. This overview chapter discusses the general flow of activities within the cytogenetics laboratory, as well as the theories behind their processes, i.e., chromosome harvesting, slide staining, chromosome analysis, and case reporting, as it applies to all specimens. The reader will learn about the history of cytogenetics, the flow of work, and the principles behind the methods used in a clinical cytogenetics laboratory. The author also covers cell culture, chromosome banding, microscopy, karyotyping, chromosome abnormalities, and sources of error. The chapter is written as an introduction to these topics; each topic will again be covered, but in more depth, in later chapters. Of special emphasis in this chapter, however, is the authors’ discussion on the art of slidemaking, a skill that every wet-lab technologist must master, and a task that crosses several specimen boundaries. Protocols are included with this chapter.