Zneimer Susan Mahler. Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting and Interpretation of Result

Wiley-Blackwell, 2014. — 640 p. — ISBN 978-1-118-91249-2.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.Chromosome Analysis
Fluorescence In Situ Hybridization (FISH) Analysis
Chromosomal Microarray Analysis (CMA)
Acquired Abnormalities in Hematological and Tumor Malignancies