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.

Enlightening and accessible, The Principles of Clinical Cytogenetics constitutes an indispensable reference for today's physicians who depend on the cytogenetics laboratory for the diagnosis of their patients.

The history of science is mostly written retrospec tively, a generation or two after the actual events being discussed. Science historians are now analyzing and evaluating the origins of evolutionary and genetical theory in the nineteenth century and a sort of "Darwin industry" seems to have grown up. A history of mammalian cytogenetics by one of the main participants is, hence, a very welcome change, since it has a vividness, an immediacy and a personal flavor which these scholarly tomes and the official biog raphies of scientists mostly lack. The life of the author, Chinese-born, T. C. Hsu, has been a romantic and color ful one, and he is himself a unique personality, so that his book is a very unusual blend of reminiscences, history of his special field (which has transformed human genetics) and wise comments on the mistakes made along the way. The best qualities of a very fine Chinese mind have contributed to Dr. Hsu's career, including this book. Those qualities (which seem to me especially Chinese) include a kind of transparent honesty, a very direct em pirical approach to problems and superb technical ability.

The fourth edition of this well-known text provides students, researchers and technicians in the area of medicine, genetics and cell biology with a concise, understandable introduction to the structure and behavior of human chromosomes. This new edition continues to cover both basic and up-to-date material on normal and defective chromosomes, yet is particularly strengthened by the complete revision of the material on the molecular genetics of chromosomes and chromosomal defects. The mapping and molecular analysis of chromosomes is one of the most exciting and active areas of modern biomedical research, and this book will be invaluable to scientists, students, technicians and physicians with an interest in the function and dysfunction of chromosomes.

Clinical Precision Medicine: A Primer offers clinicians, researchers and students a practical, up-to-date resource on precision medicine, its evolving technologies, and pathways towards clinical implementation. Early chapters address the fundamentals of molecular biology and gene regulation as they relate to precision medicine, as well as the foundations of heredity and epigenetics. Oncology, an early adopter of precision approaches, is considered with its relationship to genetic variation in drug metabolism, along with tumor immunology and the impact of DNA variation in clinical care. Contributions by Stephanie Kramer, a Clinical Genetic Counselor, also provide current information on prenatal diagnostics and adult genetics that highlight the critical role of genetic counselors in the era of precision medicine. - Includes applied discussions of chromosomes and chromosomal abnormalities, molecular genetics, epigenetic regulation, heredity, clinical genetics, pharmacogenomics and immunogenomics - Features chapter contributions from leaders in the field - Consolidates fundamental concepts and current practices of precision medicine in one convenient resource

The past two decades have witnessed a truly phenomenal growth and expansion in our knowledge of the principles and mechanisms of in heritance. :\iolecular and microbial genetics, for all purposes non-existent at the outset of this period, have developed and flourished to the extent of becoming major branches of genetics from which the most exciting and edifying concepts of gene function and structure have been derived. Similarly, man, heretofore a genetic curiosity, has become in his own right a genetic organism of first rank importance. It is, therefore, not without reason that accompanying the rapid proliferation of genetic knowledge, a parallel increase has occurred in the technical nomen clature and terminology special to the field of genetics and often special to specific branches of genetics. In preparing this glossary of ca. 2500 entries, we have attempted to compile and collate the terminology from seemingly unrelated, widely separated branches of genetics - classical and molecular; microbial and human; cytogenetics and population genetics. We have not been content merely to collect terms and definitions much as is found in a dictionary. Rather our aim has been to provide material suitable and usable both for students and research workers. Accordingly, depending upon our evaluation, some terms have simply been defined, others have been described at some length even to the extent of providing experi mental data.

The only monograph on cytogenetics for the pathologist, this up-to-the-minute reference/text contains the most up-to-date research findings on many important topics in medical genetics-notably FISH (fluorescent in situ hybridation)-based molecular cytogenetic technologies and spectral karyotyping. An excellent resource for cytogeneticists prepar

2006 marked the 50th anniversary of the discovery of the human chromosome number, establishing human cytogenetics as a scientific discipline and setting the basis for modern medical genetics. First Years of Human Chromosomes draws together the ground-breaking work of the main researchers in the key period 1955 to 1960. The book is based on interviews with these researchers and descriptions of the major research findings, giving a strong sense of the excitement and thoughts of those involved. To complete the picture, it also features a CD of the recorded interviews.

Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing, epigenetic study approaches, optical mapping/karyomapping, and CRISPR-cas9 applications for cytogenomics. The book's second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis. This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists. - Offers applied approaches empowering a new generation of cytogenomic research using a balanced combination of classical and advanced technologies - Provides a framework for interpreting chromosome structure and how this affects the functioning of the genome in health and disease - Features chapter contributions from international leaders in the field