Cytogenetic Abnormalities

Book excerpt: Cytogenetics is the study of the structure and function of chromosomes in relation to phenotypic expression.Chromosomal abnormalities underlie the development of a wide variety of diseases and disorders ranging from Down syndrome to cancer, and are of widespread interest in both basic and clinical research. Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting is a practical guide that describes cytogenetic abnormalities, their clinical implications and how best to report and communicate laboratory findings in research and clinical settings. The text first examines chromosomal, FISH, and microarray-based analyses in constitutional disorders. Using these same methodologies, the book's focus shifts to acquired abnormalities in cancers. Both sections provide illustrative examples of cytogenetic abnormalities and how to communicate these findings in standardized laboratory reports. Providing both a wealth of cytogenetic information, as well as practical guidance on how best to communicate findings to fellow research and medical professionals, Cytogenetic Abnormalities will be an essential resource for cytogeneticists, laboratory personnel, clinicians, research scientists, and students in the field. A guide to interpreting and reporting cytogenetic laboratory results involved in constitutional disorders and cancers Guides the reader on implementing the International System for Human Cytogenetic Nomenclature in written reports Provides information to allow scientists and medical professionals to fully understand and communicate cytogenetic abnormalities Describes a wide array of cytogenetic abnormalities observed in the laboratory Divided into user-friendly sections devoted to methodologies and implications of specific diseases