Download or read book Chromosome Abnormalities and Genetic Counseling written by R.J. MKinlay Gardner and published by OUP USA. This book was released on 2012 with total page 650 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Gardner and Sutherland s Chromosome Abnormalities and Genetic Counseling written by R. J. M. Gardner and published by Oxford University Press. This book was released on 2018 with total page 729 pages. Available in PDF, EPUB and Kindle. Book excerpt: Preceded by Chromosome abnormalities and genetic counseling / R.J. McKinlay Gardner, Grant R. Sutherland, Lisa G. Shaffer. c2012.
Download or read book Chromosome Abnormalities and Genetic Counseling written by R. J. McKinlay Gardner and published by Oxford University Press. This book was released on 2003-08-28 with total page 596 pages. Available in PDF, EPUB and Kindle. Book excerpt: Chromosomal abnormalities can cause disability in children, and reproductive difficulty in parents. Many parents and couples seek genetic counseling in order to learn why they, or a relative, may have had a child with a particular collection of medical problems and/or intellectual disability. There may have been a history of multiple miscarriage, or infertility. They may want to know the outlook for a pregnancy, and what the risks might be. These and other questions concerning chromosome abnormalities are addressed in this standard text, which will be of interest to genetic counselors, medical geneticists, pediatricians and obstetricians, infertility specialists, and laboratory cytogeneticists. This third edition has been thorougly updated, and is richly illustrated and fully referenced. New chapters have been written on preimplantation diagnosis and on reproductive risks due to environmental agents. The practical applications of recent advances in molecular cytogentics are noted. The book will give counselors the information that will enable them to help concerned parents accommodate to their particular "chromosomal situation", and to determine what may be, for them, the best course of action.
Download or read book Gardner and Sutherland s Chromosome Abnormalities and Genetic Counseling written by R.J. McKinlay Gardner and published by Oxford University Press. This book was released on 2018-02-06 with total page 634 pages. Available in PDF, EPUB and Kindle. Book excerpt: Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.
Download or read book Chromosome Abnormalities and Genetic Counseling written by R. J. M. Gardner and published by . This book was released on 2012 with total page 634 pages. Available in PDF, EPUB and Kindle. Book excerpt: Chromosome abnormalities have been known for over 50 years, though the methods of analysis have become increasing more sophisticated and precise. Surprisingly, the questions that parents and families raise in genetic counseling have changed little over that period. Questions like, "Why did an abnormality happen? Why did it cause the problems we see in our child? Would it happen again in a future child? How could we avoid it happening again?" are common concerns for families. This new edition of Chromosome Abnormalities and Genetic Counseling deals with these universal questions, and in the con.
Download or read book Gardner and Sutherland s Chromosome Abnormalities and Genetic Counseling written by R. J. M. Gardner and published by . This book was released on 2018 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: This work is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition represents a leap forward in clinical understanding and communication.
Download or read book Cytogenetic Abnormalities written by Susan Mahler Zneimer and published by John Wiley & Sons. This book was released on 2014-08-21 with total page 672 pages. Available in PDF, EPUB and Kindle. 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
Download or read book The AGT Cytogenetics Laboratory Manual written by Marilyn S. Arsham and published by John Wiley & Sons. This book was released on 2017-04-24 with total page 1216 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Iscn 2020 written by Jean McGowan-Jordan and published by . This book was released on 2020-12-31 with total page 164 pages. Available in PDF, EPUB and Kindle. Book excerpt: This reprint of 'Cytogenetic and Genome Research' contains contributions discussing the subject in-depth. 'Cytogenetic and Genome Research' is a well-respected, international peer-reviewed journal in genetics.
Download or read book Adams Oliver Syndrome written by Aamir Al Mosawi and published by . This book was released on 2018-10-26 with total page 72 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Human Chromosome Variation Heteromorphism and Polymorphism written by Herman E. Wyandt and published by Springer Science & Business Media. This book was released on 2011-08-20 with total page 216 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human Chromosome Variation: Heteromorphism and Polymorphism was formerly printed under the title “Atlas of Human Chromosome Heteromorphism”. The Atlas has become a standard reference book in most cytogenetic laboratories and is cited as a significant reference in ISCN 2009. This revised version has updated and retained the most useful pictorial sections of the first edition, including the comprehensive review of normal and “not-so-normal” variations of the human karyotype with summaries and extensive reference lists organized by chromosome number. This updated edition features concise background information on chromosome methods and applications, essential information on heteromorphism frequencies in normal and clinical populations as well as new listing and discussions of euchromatic, subtelomeric and FISH variants. The addition of two new sections make this an even more valuable reference than before. A section on common and rare fragile sites includes a short historical discussion, definitions and an extensive table of officially recognized sites that includes the HUGO name, chromosomal location, methods of induction, genes and references to the most recent molecular characterization. A new section on array CGH discusses the clinical challenge of interpreting copy number variations (CNVs) revealed by this newest technology, gives examples of various levels of interpretation and lists the several most common websites used in this interpretation.
Download or read book A Guide to Genetic Counseling written by Wendy R. Uhlmann and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 644 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first book devoted exclusively to the principles and practice of genetic counseling—now in a new edition First published in 1998, A Guide to Genetic Counseling quickly became a bestselling and widely recognized text, used nationally and internationally in genetic counseling training programs. Now in its eagerly anticipated Second Edition, it provides a thoroughly revised and comprehensive overview of genetic counseling, focusing on the components, theoretical framework, and unique approach to patient care that are the basis of this profession. The book defines the core competencies and covers the genetic counseling process from case initiation to completion—in addition to addressing global professional issues—with an emphasis on describing fundamental principles and practices. Chapters are written by leaders in the field of genetic counseling and are organized to facilitate academic instruction and skill attainment. They provide the most up-to-date coverage of: The history and practice of genetic counseling Family history Interviewing Case preparation and management Psychosocial counseling Patient education Risk communication and decision-making Medical genetics evaluation Understanding genetic testing Medical documentation Multicultural counseling Ethical and legal issues Student supervision Genetic counseling research Professional development Genetics education and outreach Evolving roles and expanding opportunities Case examples A Guide to Genetic Counseling, Second Edition belongs on the syllabi of all medical and human genetics and genetic counseling training programs. It is an indispensable reference for both students and healthcare professionals working with patients who have or are at risk for genetic conditions.
Download or read book Genomics and Health in the Developing World written by Dhavendra Kumar and published by Oxford University Press. This book was released on 2012-05-11 with total page 1536 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics and Health in the Developing World provides detailed and comprehensive coverage of population structures, human genomics, and genome variation--with particular emphasis on medical and health issues--in the emerging economies and countries of the developing world. With sections dedicated to fundamtals of genetics and genomics, epidemiology of human disease, biomarkers, comparative genomics, developments in translational genomic medicine, current and future health strategies related to genetic disease, and pertinent legislative and social factors, this volume highlights the importance of utilizing genetics/genomics knowledge to promote and achieve optimal health in the developing world. Grouped by geographic region, the chapters in this volume address: - Inherited disorders in the developing world, including a thorough look at genetic disorders in minority groups of every continent - The progress of diagnostic laboratory genetic testing, prenatal screening, and genetic counseling worldwide - Rising ethical and legal concerns of medical genetics in the developing world - Social, cultural, and religious issues related to genetic diseases across continents Both timely and vastly informative, this book is a unique and comprehensive resource for genetists, clinicians, and public health professionals interested in the social, ethical, economic, and legal matters associated with medical genetics in the developing world.
Download or read book Medical Cytogenetics written by Mark Hon Fong L. and published by CRC Press. This book was released on 2000-04-11 with total page 728 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Download or read book Ancient History from Below written by Cyril Courrier and published by Routledge. This book was released on 2021-09-30 with total page 330 pages. Available in PDF, EPUB and Kindle. Book excerpt: If ancient history is particularly susceptible to a top-down approach, due to the nature of our evidence and its traditional exploitation by modern scholars, another ancient history—‘from below’—is actually possible. This volume examines the possibilities and challenges involved in writing it. Despite undeniable advances in recent decades, ‘our slowness to reconstruct plausible visions of almost any aspect of society beyond the top-most strata of wealth, power or status’ (as Nicholas Purcell has put it) remains a persistent feature of the field. Therefore, this book concerns a historical field and social groups that are still today neglected by modern scholarship. However, writing ancient history ‘from below’ means much more than taking into account the anonymous masses, the subaltern classes and the non-elites. Our task is also, in the felicitous expression coined by Walter Benjamin, ‘to brush history against the grain,’ to rescue the viewpoint of the subordinated, the traditions of the oppressed. In other words, we should understand the bulk of ancient populations in light of their own experience and their own reactions to that experience. But, how do we do such a history? What sources can we use? What methods and approaches can we employ? What concepts are required to this endeavour? The contributions mainly engage with questions of theory and methodology, but they also constitute inspiring case studies in their own right, ranging from classical Greece to the late antique world. This book is aimed not only at readers working on classical Greece, republican and imperial Rome and late antiquity but at anyone interested in ‘bottom-up’ history and social and population history in general. Although the book is primarily intended for scholars, it will also appeal to graduate and undergraduate students of history, archaeology and classical studies.
Download or read book The Principles of Clinical Cytogenetics written by Steven Gersen and published by Humana Press. This book was released on 2010-10-12 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive, in-depth explanation of the basic concepts and interpretations involved in chromosome analysis, a critical technique in the diagnosis, prognosis, and monitoring of a wide variety of conditions. Designed for the health care provider who must use and explain the often complex results of these tests, this book details in understandable language the various applications of chromosome analysis in clinical settings and the clinical significance of abnormal results. In addition, the book offers an informative tutorial on basic laboratory procedures (including microscopy, photomicrography, automation, computerized karyotyping, and QA/QC), reports on novel synergistic technologies such as FISH, and discusses issues in genetic counseling. Enlightening and accessible, The Principles of Clinical Cytogenetics constitutes an indispensable reference for today's physicians and managed care practitioners who depend on the cytogenetics laboratory for the diagnosis of their patients' ailments.
Download or read book Life As We Know It written by Michael Berube and published by Vintage. This book was released on 1998-03-31 with total page 306 pages. Available in PDF, EPUB and Kindle. Book excerpt: When Jamie Bérubé was born with Down syndrome in 1991, he was immediately subject to the medical procedures, insurance guidelines, policies, and representations that surround every child our society designates as disabled. In this wrenching yet ultimately inspiring book, Jamie's father, literary scholar Michael Bérubé, describes not only the challenges of raising his son but the challenge of seeing him as a person rather than as a medical, genetic, or social problem.
