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

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.

A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as: The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes Each chapter of Medical Genetics is logically organized into three sections: Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.

Accompanying CD-ROM contains ... "a companion eBook version of Molecular diagnostics : for the clinical laboratorian, Second edition ... for downloading and use in the reader's PC or PDA."--Page 4 of cover.

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.

The first three editions of this acclaimed book presented a much-needed conceptual synthesis of this rapidly moving field. Now, Cancer Cytogenetics, Fourth Edition, offers a comprehensive, expanded, and up-to-date review of recent dramatic advances in this area, incorporating a vast amount of new data from the latest basic and clinical investigations. New contributors reflecting broader international authorship and even greater expertise Greater emphasis throughout on the clinical importance and application of information about cytogenetic and molecular aberrations Includes a complete coverage of chromosome aberrations in cancer based on an assessment of the 60,000 neoplasms cytogenetically investigated to date Now produced in full color for enhanced clarity Covers how molecular genetic data (PCR-based and sequencing information) are collated with the cytogenetic data where pertinent Discusses how molecular cytogenetic data (based on studies using FISH, CGH, SNP, etc) are fused with karyotyping data to enable an as comprehensive understanding of cancer cytogenetics as is currently possible

The new techniques of molecular cytogenetics, mainly fluorescence in situ hybridization (FISH) of DNA probes to metaphase chromosomes or interphase nuclei, have been developed in the past two decades. Many FISH techniques have been implemented for diagnostic services, whereas some others are mainly used for investigational purposes. Several hundreds of FISH probes and hybridization kits are now commercially available, and the list is growing rapidly. FISH has been widely used as a powerful diagnostic tool in many areas of medicine including pediatrics, medical genetics, maternal–fetal medicine, reproductive medicine, pathology, hematology, and oncology. Frequently, a physician may be puzzled by the variety of FISH techniques and wonder what test to order. It is not uncommon that a sample is referred to a laboratory for FISH without indicating a specific test. On the other hand, a cytogeneticist or a technologist in a laboratory needs, from case to case, to determine which procedure to perform and which probe to use for an informative result. To obtain the best results, one must use the right DNA probes and have reliable protocols and measures of quality assurance in place. Also, one must have sufficient knowledge in both traditional and molecular cytogenetics, as well as the particular areas of medicine for which the test is used in order to appropriately interpret the FISH results, and to correlate them with clinical diagnosis, treatment, and prognosis.

Medical Genetics provides medical and biomedical students with an understanding of the basic principles of human genetics as they relate to clinical practice, showing how our genome lies at the heart of our health and well-being.

Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.

This is one of the few medical genetics texts on a 2-year revision cycle. It provides up-to-date information that can be read, retained, and applied with ease! The 3rd Edition covers pharmacogenomics, the societal implications of technologies, the Human Genome Project, cloning, genetic enhancement, and embryonic stem cell research, new tumor suppressor genes and oncogenes, and more. Mini-summaries, study questions, suggested readings, and a detailed glossary facilitate review of the material. Clinical relevance is demonstrated in over 230 photographs, illustrations, and tables as well as boxes containing patient/family vignettes. Its coverage includes ethical, legal, and social issues and clinical commentary on important genetic diseases. A companion web site offers continuing updates and a wealth of additional features. The smart way to study! Elsevier titles with STUDENT CONSULT will help you master difficult concepts and study more efficiently in print and online! Perform rapid searches. Integrate bonus content from other disciplines. Download text to your handheld device. And a lot more. Each STUDENT CONSULT title comes with full text online, a unique image library, case studies, USMLE style questions, and online note-taking to enhance your learning experience. Your purchase of this book entitles you to access www.studentconsult.com at no extra charge. This innovative web site offers you... Access to the complete text and illustrations of this book. Integration links to bonus content in other STUDENT CONSULT titles. Content clipping for your handheld. An interactive community center with a wealth of additional resources. The more STUDENT CONSULT titles you buy, the more resources you can access online! Look for the STUDENT CONSULT logo on your favorite Elsevier textbooks! Features mini-summaries that appear in bold throughout each chapter. Supplies study questions and suggested readings at the end of each chapter. Contains a detailed glossary at the end of the book. Offers Clinical Commentary boxes that present detailed coverage of the most important genetic diseases and provide examples of modern clinical management. Demonstrates clinical relevance with boxed patient/family vignettes and coverage of ethical, legal, and social issues. Provides visual reinforcement and easy access to key information with over 230 photographs, illustrations, and tables. Includes a companion website with continuing content updates, additional clinical images, and more!