Basic Concepts and Background -- History of Clinical Cytogenetics -- DNA, Chromosomes, and Cell Division -- Human Chromosome Nomenclature -- Examining and Analyzing Chromosomes -- Basic Laboratory Procedures -- The Fundamentals of Microscopy -- Quality Control and Quality Assurance -- Instrumentation in the Cytogenetics Laboratory -- Clinical Cytogenetics -- Autosomal Aneuploidy -- Structural Chromosome Rearrangements -- Sex Chromosomes and Sex Chromosome Abnormalities -- Cytogenetics of Infertility -- Prenatal Cytogenetics -- Cytogenetics of Spontaneous Abortion -- Chromosome Instability -- Cancer Cytogenetics -- Cytogenetics of Hematologic Neoplasms -- Cytogenetics of Solid Tumors -- Fluorescence In Situ Hybridization -- Fluorescence In Situ Hybridization -- Beyond Chromosomes -- Fragile X -- Genomic Imprinting and Uniparental Disomy -- Genetic Counseling.

In this thoroughly revised and expanded edition of a highly praised classic, The Principles of Clinical Cytogenetics, a panel of hands-on experts update their survey of the basic concepts and interpretations involved in chromosome analysis to include the many advances that have occurred in the field. Among the highlights are a full section devoted to advances in fluorescence in situ hybridization (FISH) technology, increased coverage of cancer cytogenetics-both hematopoietic neoplasms and tumor cytogenetics-and new chapters on chromosome instability and the cytogenetics of infertility. The book also reflects major advances in instrumentation and the transition from FAB to World Health Organization nomenclature for hematopoietic disorders. State-of-the-art and readily accessible, The Principles of Clinical Cytogenetics, 2nd Edition offers physicians who depend on the cytogenetics laboratory for the diagnosis of their patients, students in cytogenetics programs, and cytogeneticists the clear understanding they need to carry out and interpret their test results rapidly.