Cytogenetics is the study of chromosome morphology, structure, pathology, function, and behavior. The field has evolved to embrace molecular cytogenetic changes, now termed cytogenomics. Cytogeneticists utilize an assortment of procedures to investigate the full complement of chromosomes and/or a targeted region within a specific chromosome in metaphase or interphase. Tools include routine analysis of G-banded chromosomes, specialized stains that address specific chromosomal structures, and molecular probes, such as fluorescence in situ hybridization (FISH) and chromosome microarray analysis, which employ a variety of methods to highlight a region as small as a single, specific genetic sequence under investigation.   The AGT Cytogenetics Laboratory Manual, Fourth Edition offers a comprehensive description of the diagnostic tests offered by the clinical laboratory and explains the science behind them. One of the most valuable assets is its rich compilation of laboratory-tested protocols currently being used in leading laboratories, along with practical advice for nearly every area of interest to cytogeneticists. In addition to covering essential topics that have been the backbone of cytogenetics for over 60 years, such as the basic components of a cell, use of a microscope, human tissue processing for cytogenetic analysis (prenatal, constitutional, and neoplastic), laboratory safety, and the mechanisms behind chromosome rearrangement and aneuploidy, this edition introduces new and expanded chapters by experts in the field. Some of these new topics include a unique collection of chromosome heteromorphisms; clinical examples of genomic imprinting; an example-driven overview of chromosomal microarray; mathematics specifically geared for the cytogeneticist; usage of ISCN's cytogenetic language to describe chromosome changes; tips for laboratory management; examples of laboratory information systems; a collection of internet and library resources; and a special chapter on animal chromosomes for the research and zoo cytogeneticist. The range of topics is thus broad yet comprehensive, offering the student a resource that teaches the procedures performed in the cytogenetics laboratory environment, and the laboratory professional with a peer-reviewed reference that explores the basis of each of these procedures. This makes it a useful resource for researchers, clinicians, and lab professionals, as well as students in a university or medical school setting. Die Zyto- oder Zellgenetik untersucht die Morphologie, Struktur, Pathologie, Funktion und das Verhalten von Chromosomen. Entstanden ist dieses Teilgebiet der Genetik, um zytogenetische Veränderungen auf Molekularebene abzubilden. Heute spricht man in diesem Zusammenhang von der Zellgenomik. Zellgenetiker greifen auf eine ganze Reihe von Verfahren zurück, um Chromosomen und/oder eine Zielregion eines bestimmten Chromosom in der Meta- oder Interphase zu untersuchen. Zu den Tools gehören Routineanalysen von Chromosomen (G-Banding), spezielle Stains für bestimmte Chromosomenstrukturen und molekulare Sonden, z. B. im Bereich der Fluoreszenz-in-situ-Hybridisierung (FISH) sowie der Chromosomenanalyse auf Microarray-Basis. Zum Einsatz kommen eine Vielzahl von Methoden, um eine zu untersuchenden Region hervorzuheben, der so klein ist, wie eine einzige, spezifische Gensequenz.