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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.
Recent Trends in Cytogenetic Studies - Methodologies and Applications deals with recent trends in cytogenetics with minute details of methodologies that can be adopted in clinical laboratories. The chapters deal with basic methods of primary cultures, cell lines and their applications; microtechnologies and automations; array CGH for the diagnosis of fetal conditions; approaches to acute lymphoblastic and myeloblastic leukemias in patients and survivors of atomic bomb exposure; use of digital image technology and using chromosomes as tools to discover biodiversity. While concentrating on the advanced methodologies in cytogenetic studies and their applications, authors have pointed out the need to develop cytogenetic labs with modern tools to facilitate precise and effective diagnosis to benefit the patient population.
Following a section on tissue culture, chromosome staining and basic information about karyotyping, this text presents nomenclature and quality standards, as well as protocols of relevance to comprehensive cytogenetic diagnostics.
This is the first book to be devoted entirely to the application and development of flow techniques in cytogenetics. It provides comprehensive information on the use of flow cytometry and sorting for chromosome classification and purification. Cytogenetics and molecular biologists will find this book an invaluable reference source. - Practical details for the preparation and analysis of chromosomes using flow cytometry - Flow karyotyping for sensitive rapid analysis of chromosome normality and the detection of aberrant chromosomes - Flow sorting as a source of chromosome-specific DNA for gene mapping and recombinant DNA libraries - Construction and current status of chromosome-specific recombinant DNA libraries
Cytogenetics plays an important role in understanding the chromosomal and genetic architecture of plant species. Plant Cytogenetics, Third Edition follows the tradition of its predecessors presenting theoretical and practical aspects of plant cytogenetics. Chapters describe correct handling of plant chromosomes, methods in plant cytogenetics, cell division, reproduction methods, chromosome nomenclature, karyotype analysis, chromosomal aberrations, genome analysis, transgenic crops, and cytogenetics in plant breeding. This new edition begins with a brief introduction on the historical aspect of cytogenetics and flows directly into handling of plant chromosomes by classical and modern cytological techniques, classical Mendelian Genetics, brief description of cell division, and chromosome identification by karyotype analysis. The comprehension of cytogenetics is incomplete without information on the role of aneuploidy in associating a gene on a particular chromosome, and the book covers these methodologies as a primary topic. Covering classical to modern cytogenetics, the book presents to the reader the crucial role of cytogenetics in improving crops.
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
It is a pleasure to contribute the foreword to Introduction to Cell and Tissue Culture: The ory and Techniques by Mather and Roberts. Despite the occasional appearance of thought ful works devoted to elementary or advanced cell culture methodology, a place remains for a comprehensive and definitive volume that can be used to advantage by both the novice and the expert in the field. In this book, Mather and Roberts present the relevant method ology within a conceptual framework of cell biology, genetics, nutrition, endocrinology, and physiology that renders technical cell culture information in a comprehensive, logical for mat. This allows topics to be presented with an emphasis on troubleshooting problems from a basis of understanding the underlying theory. The material is presented in a way that is adaptable to student use in formal courses; it also should be functional when used on a daily basis by professional cell culturists in a- demia and industry. The volume includes references to relevant Internet sites and other use ful sources of information. In addition to the fundamentals, attention is also given to mod ern applications and approaches to cell culture derivation, medium formulation, culture scale-up, and biotechnology, presented by scientists who are pioneers in these areas. With this volume, it should be possible to establish and maintain a cell culture laboratory devot ed to any of the many disciplines to which cell culture methodology is applicable.
Ten years ago a symposium on Cytotaxonomy 'was held in London (Proc. Linn. Soc. Lond. 169:110, 1958) in which a first attempt was made to bring together various disciplines to discuss advances of mammalian cytogenetics and to put them into proper context with the sciences of evolution and taxonomy. The introductory remarks by \V. B. Turrill to that symposium, essentially an admonishment to be tolerant of the short comings of our respective disciplines, would be a most appropriate begin ning to this conference as ,,'ell. However, the meeting held at Hanover was conceived more along the lines of remarks made by R. B. Seymour Se,,'ell in his presidential address to the same society: "It has been said that scientists in this search for truth are nowadays too much concerned with the accumulation of facts, and make too little use of their imagina tion in their attempts to explain such facts as they have accumulated. " (In "The continental drift theory and the distribution of the Copepoda," ibid. 166:149, 1956. ) \\Tith this as a background, two years ago we held the first of a series of loosely-structured conferences on reproductive failure in the relaxing atmosphere of this small New England college community. The manu scripts of that meeting have been published (Comparative Aspects of Re productive Failure, Springer-Verlag New York Inc. , 1967).
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