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| chromosome abnormalities and genetic counseling 5th edition: Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling R.J. McKinlay Gardner, David Amor, 2018-02-06 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. |
| chromosome abnormalities and genetic counseling 5th edition: Chromosome Abnormalities and Genetic Counseling R.J.M McKinlay Gardner, Grant R Sutherland, Lisa G. Shaffer, 2011-11-11 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 context of the recent developments in molecular cytogenetic analysis, but retaining always the major focus on the needs of the families in which these conditions occur. Thoroughly updated once again, this richly-illustrated text combines basic concepts of chromosomal analysis with practical applications of recent advances in molecular cytogentics. The book will give counselors the information that will enable them to help concerned parents accommodate and adapt to their particular chromosomal challenges and to determine what may be, for them, the best course of action. |
| chromosome abnormalities and genetic counseling 5th edition: Chromosome Abnormalities and Genetic Counseling R. J. McKinlay Gardner, Grant R. Sutherland, 2003-08-28 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. |
| chromosome abnormalities and genetic counseling 5th edition: Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling R. J. McKinlay Gardner, David J. Amor, 2018 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. |
| chromosome abnormalities and genetic counseling 5th edition: Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling R.J. McKinlay Gardner, David Amor, 2018-02-06 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. |
| chromosome abnormalities and genetic counseling 5th edition: Practical Genetic Counseling for the Laboratory McKinsey L. Goodenberger, Brittany C. Thomas, Teresa Kruisselbrink, 2017 This is an essential manual for the future of genetic counselling. It codifies the theory and practice of laboratory genetic counselling in an accessible and comprehensive format. With contributions from laboratorians, geneticists, and genetic counsellors from more than 30 institutions, it offers a manual of standards and practices that will benefit students and counsellors at any career stage |
| chromosome abnormalities and genetic counseling 5th edition: The AGT Cytogenetics Laboratory Manual Marilyn S. Arsham, Margaret J. Barch, Helen J. Lawce, 2017-04-24 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. |
| chromosome abnormalities and genetic counseling 5th edition: Cassidy and Allanson's Management of Genetic Syndromes John C. Carey, Suzanne B. Cassidy, Agatino Battaglia, David Viskochil, 2021-01-27 MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders. |
| chromosome abnormalities and genetic counseling 5th edition: Practical Genetic Counselling Peter Harper, 2010-08-27 Easy to use, and useful when kept close at hand in the room where you work. The book is a pleasure to read: the style elegant and authoritative.' Lancet'...this book is a wonderful reference to enable primary physicians to be informed about their patients.' Annals of Internal MedicineUniversally used across the world by genetic counsellors, medical |
| chromosome abnormalities and genetic counseling 5th edition: Genetics in Medicine James Scott Thompson, Margaret Wilson Thompson, 1973 |
| chromosome abnormalities and genetic counseling 5th edition: ISCN 2020 Jean McGowan-Jordan, Ros Hastings, Sarah Moore, 2020 |
| chromosome abnormalities and genetic counseling 5th edition: Genetic Counselling Christine Evans, 2006-03-09 This manual is essential reading for genetic counsellors and counsellors of all disciplines. |
| chromosome abnormalities and genetic counseling 5th edition: Molecular Genetic Pathology Liang Cheng, David Y. Zhang, John N. Eble, 2013-03-05 Molecular Genetic Pathology, Second Edition presents up-to-date material containing fundamental information relevant to the clinical practice of molecular genetic pathology. Fully updated in each area and expanded to include identification of new infectious agents (H1N1), new diagnostic biomarkers and biomarkers for targeted cancer therapy. This edition is also expanded to include the many new technologies that have become available in the past few years such as microarray (AmpliChip) and high throughput deep sequencing, which will certainly change the clinical practice of molecular genetic pathology. Part I examines the clinical aspects of molecular biology and technology, genomics. Poharmacogenomics and proteomics, while Part II covers the clinically relevant information of medical genetics, hematology, transfusion medicine, oncology, and forensic pathology. Supplemented with many useful figures and presented in a helpful bullet-point format, Molecular Genetic Pathology, Second Edition provides a unique reference for practicing pathologists, oncologists, internists, and medical genetisists. Furthermore, a book with concise overview of the field and highlights of clinical applications will certainly help those trainees, including pathology residents, genetics residents, molecular pathology fellows, internists, hematology/oncology fellows, and medical technologists in preparing for their board examination/certification. |
| chromosome abnormalities and genetic counseling 5th edition: Medical Genetics Lynn B. Jorde, John C. Carey, Michael J. Bamshad, Raymond L. White, 2003 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! |
| chromosome abnormalities and genetic counseling 5th edition: Vademecum Metabolicum Johannes Zschocke, Georg F. Hoffmann, 2011 |
| chromosome abnormalities and genetic counseling 5th edition: Congenital Disorders Sourcebook, 5th Ed. James Chambers, 2021-07-01 Consumer health information about nonhereditary birth defects and disorders, including facts about prevention and treatment options. Includes index, glossary of related terms, and other resources. |
| chromosome abnormalities and genetic counseling 5th edition: IAP Textbook of Pediatrics A Parthasarathy, PSN Menon, MKC Nair, 2019-02-04 SECTION 1 BASIC CONCEPTS OF CHILD CARE SECTION 2 CARE OF THE NEWBORN SECTION 3 GROWTH AND DEVELOPMENT SECTION 4 NUTRITION SECTION 5 IMMUNITY, IMMUNIZATION AND INFECTIOUS DISEASES SECTION 6 DISEASES OF CENTRAL NERVOUS SYSTEM SECTION 7 DISEASES OF CARDIOVASCULAR SYSTEM SECTION 8 DISEASES OF RESPIRATORY SYSTEM SECTION 9 DISEASES OF GASTROINTESTINAL SYSTEM AND LIVER SECTION 10 DISEASES OF KIDNEY AND URINARY TRACT SECTION 11 DISEASES OF BLOOD SECTION 12 PEDIATRIC MALIGNANCIES SECTION 13 ENDOCRINOLOGY SECTION 14 GENETICS SECTION 15 ADOLESCENT HEALTH SECTION 16 RHEUMATOLOGY SECTION 17 INTENSIVE CARE AND EMERGENCIES SECTION 18 PEDIATRIC SUBSPECIALTIES SECTION 19 COMMUNITY PEDIATRICS SECTION 20 PEDIATRIC PROCEDURES SECTION 21 PEDIATRIC THERAPEUTICS Appendix Index |
| chromosome abnormalities and genetic counseling 5th edition: Merenstein & Gardner's Handbook of Neonatal Intensive Care - E-Book Sandra Lee Gardner, Brian S. Carter, Mary I Enzman-Hines, Susan Niermeyer, 2020-02-05 Co-authored by an interprofessional collaborative team of physicians and nurses, Merenstein & Gardner's Handbook of Neonatal Intensive Care, 9th Edition is the leading resource for interprofessional, collaborative care of critically ill newborns. It offers comprehensive coverage with a unique interprofessional collaborative approach and a real-world perspective that make it a practical guide for both nurses and physicians. The new ninth edition features a wealth of expanded content on delivery-room care; new evidence-based care bundles; palliative care in the NICU; interprofessional collaborative care of parents with depression, grief, and complicated grief; and new pain assessment tools. Updated high-quality references have also been reintegrated into the book, making it easier for clinicians to locate research evidence and standards of care with minimal effort. These additions, along with updates throughout, ensure that clinicians are equipped with the very latest clinical care guidelines and practice recommendations — all in a practical quick-reference format for easy retrieval and review. - UNIQUE! Core author team of two physicians and two nurses gives this internationally recognized reference a true interprofessional collaborative approach that is unmatched by any other resource. - Consistent organization within clinical chapters include Physiology/Pathophysiology, Etiology, Prevention, Data Collection (History, Signs and Symptoms, and Laboratory Data), Treatment/Intervention, Complications, and Parent Teaching sections. - UNIQUE! Color-highlighted point-of-care clinical content makes high-priority clinical content quick and easy to find. - UNIQUE! Parent Teaching boxes outline the relevant information to be shared with a patient's caregivers. - Critical Findings boxes outline symptoms and diagnostic findings that require immediate attention to help the provider prioritize assessment data and steps in initial care. - Case studies demonstrate how to apply essential content to realistic clinical scenarios for application-based learning. - NEW! Updated content throughout reflects the latest evidence-based practice, national and international guidelines, and current protocols for interprofessional collaborative practice in the NICU. - NEW! Up-to-date, high-quality references are now reintegrated into the text for quick retrieval, making it easier for clinicians to locate research evidence and standards of care with minimal effort. - NEW! Expanded content on delivery-room care includes the impact of staffing on quality of care, delayed cord clamping, resuscitation, and more. - NEW! Coverage of the new evidence-based care bundles keeps clinicians up to date on new guidelines that have demonstrated improved outcomes of very preterm infants. - NEW! Coverage of new pain assessment tools equips NICU providers with essential resources for maintaining patient comfort. - NEW! Expanded coverage of palliative care in the NICU provides the tools needed to ensure patient comfort. - NEW! Expanded coverage of interprofessional collaborative care of parents with depression, grief, and complicated grief prepares clinicians for this essential area of practice. |
| chromosome abnormalities and genetic counseling 5th edition: The Principles of Clinical Cytogenetics Steven L. Gersen, Martha B. Keagle, 2008-08-17 In the summer of 1989, one of us (SLG), along with his mentor, Dorothy Warb- ton, attended the Tenth International Workshop on Human Gene Mapping. The me- ing was held at Yale University in celebration of the first such event, which also took place there. This meeting was not open to the general public; one had to have contributed to mapping a gene to be permitted to attend. The posters, of course, were therefore all related to gene mapping, and many were covered with pretty, colorful pictures of a novel, fluorescent application of an old technology, in situ hybridization. Walking through the room, Dorothy remarked that, because of this new FISH technique, ch- mosomes, which had become yesterday’s news, were once again “back in style. ” Approximately three years later, a commercial genetics company launched a FISH assay for prenatal ploidy detection. A substantial number of cytogeneticists across the country reacted with a combination of outrage and panic. Many were concerned that physicians would be quick to adopt this newfangled upstart test and put us all on the unemployment line. They did not at the time realize what Dorothy instinctively already knew—that FISH would not spell the doom of the cytogenetics laboratory, but it would, rather, take it to new heights. |
| chromosome abnormalities and genetic counseling 5th edition: ABC of Clinical Genetics Helen M. Kingston, 1989 |
| chromosome abnormalities and genetic counseling 5th edition: Clinical Obstetrics E. Albert Reece, Gustavo F. Leguizamón, George A. Macones, Arnon Wiznitzer, 2021-03-25 From preconception care through all aspects of care of the pregnant mother and newborn infant, Clinical Obstetrics provides comprehensive, authoritative information on today’s obstetrics and maternal-fetal medicine. The fourth edition has been streamlined with concise chapters summarizing clinical content for busy practitioners. The eBook provides expanded content and exciting new animations and interactive decision-making algorithms. Together, the print and eBook offer residents, trainees, and all obstetrics and maternal-fetal practitioners a comprehensive resource featuring the most up-to-date guidelines, decision algorithms, and evidence for clinical practice. |
| chromosome abnormalities and genetic counseling 5th edition: Genomic Disorders James R. Lupski, Pawel T. Stankiewicz, 2007-11-10 A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection. |
| chromosome abnormalities and genetic counseling 5th edition: Thompson & Thompson Genetics in Medicine E-Book Robert L. Nussbaum, Roderick R. McInnes, Huntington F Willard, 2007-08-01 Through six editions, Thompson & Thompson's Genetics in Medicine has been a well-established favorite textbook on this fascinating and rapidly evolving field, integrating the classic principles of human genetics with modern molecular genetics to help you understand a wide range of genetic disorders. The 7th edition incorporates the latest advances in molecular diagnostics, the Human Genome Project, and much more. More than 240 dynamic illustrations and high-quality photos help you grasp complex concepts more easily. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included. Acquire the state-of-the-art knowledge you need on the latest advances in molecular diagnostics, the Human Genome Project, pharmacogenetics, and bio-informatics. Better understand the relationship between basic genetics and clinical medicine with a variety of clinical case studies. Recognize a wide range of genetic disorders with visual guidance from more than 240 dynamic illustrations and high-quality photos. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included. |
| chromosome abnormalities and genetic counseling 5th edition: Essentials of Medical Genetics for Health Professionals Laura M. Gunder McClary, Gunder, Scott A. Martin, 2010-09-17 Essentials of Medical Genetics for Health Professionals is a concise, accessible introduction to medical genetics for all health professions students. Even with limited exposure to genetics, students can use the accelerated approach in this text to attain a base foundation of genetics knowledge. This book begins with a review of chromosomes, DNA, RNA, protein synthesis, and inheritance patterns and continues with a clinical focus based on understanding different disease processes. A variety of genetic diseases are explored, including what is known about the genetics involved, the signs and symptoms of the disease, and the treatment options available. Accompanying tables and images aid comprehension. This book also covers diagnostic techniques and an overview of embryonic development and teratogens. The roles of genetic counseling and screening, as well as the ethical and legal issues related to genetic screening and genetic testing are also discussed. Complete with stated objectives, definition of key terms, references, chapter summaries and end of chapter review questions with answers, each chapter is organized for optimal learning. Essentials of Medical Genetics for Health Professionals will not only have application in the classroom setting for health professions or medical students, but practicing clinicians such as physician assistants, nurse practitioners, and physicians who want to learn more or revisit genetics will also find this book a valuable, useful resource. Instructor Resources include PowerPoint Slides, a TestBank, and an Image Bank. |
| chromosome abnormalities and genetic counseling 5th edition: Genetic Analysis Mark F. Sanders, John L. Bowman, 2011-12-14 Informed by many years of genetics teaching and research experience, authors Mark Sanders and John Bowman use an integrative approach that helps contextualize three core challenges of learning genetics: solving problems, understanding evolution, and understanding the connection between traditional genetics models and more modern approaches. This package contains: Genetic Analysis: An Integrated Approach |
| chromosome abnormalities and genetic counseling 5th edition: Cytogenetics and Molecular Cytogenetics Thomas Liehr, 2022-12-07 Genomic technologies provide the means of diagnosis and management of many human diseases. Without insights from cytogenetics, correct interpretation of modern high-throughput results is difficult, if not impossible. This book summarizes applications of cytogenetics and molecular cytogenetics for students, clinicians and researchers in genetics, genomics and diagnostics. The book combines the state-of-the-art knowledge and practical expertise from leading researchers and clinicians and provides a comprehensive overview of current medical and research applications of many of these technologies. KEY FEATURES • Provides clear summaries of fluorescence in situ hybridization technologies and others • Comprehensively covers established and emerging methods • Chapters from an international team of leading researchers • Useful for students, researchers and clinicians |
| chromosome abnormalities and genetic counseling 5th edition: Essential Medical Genetics Michael Connor, Malcolm Ferguson-Smith, 1997-04-29 Essential Medical Genetics gives a balanced introduction to the basic principles of genetics and how it is applied to the understanding and treatment of diseases with a genetic component. Divided into two sections, basic principles and clinical applications, it covers the information that medical students are taught at the preclinical and clinical levels. This book has been written for clinicians, scientists, counselors and teachers--and any other professionals desiring an understanding of modern medical genetics. |
| chromosome abnormalities and genetic counseling 5th edition: Perinatology Renato Augusto Moreira de Sá, Eduardo Borges da Fonseca, 2021-11-18 This book presents the latest evidence-based guidelines for perinatal management and is designed to help obstetricians and neonatologists minimize complications and offer patients the best possible care. Since 1960, there has been a significant increase in basic and clinical investigations on normal and pathological pregnancy in the developed world. This has provided insights into the physiopathology of pregnant women, fetuses and newborns and led to the development of new technologies, bringing about a new medical subspecialty: perinatal medicine. The book is divided into eight main sections: The first examines basic periconceptional care and discusses the ethical aspects of perinatology. The next section focuses on prenatal considerations, such as the nutritional aspects of gestation and puerperium, physical exercise during pregnancy, routine laboratory tests, prenatal care of multiple gestations and the role of the neonatologist in prenatal care. The third and fourth sections then explore fetal evaluation, and clinical intercurrences in pregnancy, respectively. The next section addresses pregnancy complications: prevention, diagnosis and management. The sixth section covers the basic aspects of congenital infections and the seventh examines labor and delivery aspects. Lastly, the final section includes chapters on neonatal assistance. Written by leading experts in obstetrics, neonatology, and perinatology, this thoroughly updated, comprehensive resource reflects the latest information in all areas, including genetics and imaging. |
| chromosome abnormalities and genetic counseling 5th edition: Medical Cytogenetics Hon Fong L. Mark, 2000-04-11 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 |
| chromosome abnormalities and genetic counseling 5th edition: Medical Genetics Warren G. Sanger, 2002 Medical Genetics: Pearls of Wisdom is a review manual that will help physicians improve their knowledge base in medical genetics and aid in preparation for national boards, recertification exams and rotation reviews. This book provides a review of Medical Genetics Principles in a rapid-fire question and answer format, offering students immediate gratification with a correct answer. |
| chromosome abnormalities and genetic counseling 5th edition: Gabbard's Treatments of Psychiatric Disorders Glen O. Gabbard, 2014-05-05 The definitive treatment textbook in psychiatry, this fifth edition of Gabbard's Treatments of Psychiatric Disorders has been thoroughly restructured to reflect the new DSM-5® categories, preserving its value as a state-of-the-art resource and increasing its utility in the field. The editors have produced a volume that is both comprehensive and concise, meeting the needs of clinicians who prefer a single, user-friendly volume. In the service of brevity, the book focuses on treatment over diagnostic considerations, and addresses both empirically-validated treatments and accumulated clinical wisdom where research is lacking. Noteworthy features include the following: Content is organized according to DSM-5® categories to make for rapid retrieval of relevant treatment information for the busy clinician. Outcome studies and expert opinion are presented in an accessible way to help the clinician know what treatment to use for which disorder, and how to tailor the treatment to the patient. Content is restricted to the major psychiatric conditions seen in clinical practice while leaving out less common conditions and those that have limited outcome research related to the disorder, resulting in a more streamlined and affordable text. Chapters are meticulously referenced and include dozens of tables, figures, and other illustrative features that enhance comprehension and recall. An authoritative resource for psychiatrists, psychologists, and psychiatric nurses, and an outstanding reference for students in the mental health professions, Gabbard's Treatments of Psychiatric Disorders, Fifth Edition, will prove indispensable to clinicians seeking to provide excellent care while transitioning to a DSM-5® world. |
| chromosome abnormalities and genetic counseling 5th edition: Genetic Disorders Among Arab Populations Ahmad S. Teebi, Talaat I. Farag, 1997 Few regions of the world have a more varied physiography or a richer ethnic, religious, social, and cultural mix than the Arab world. As a consequence, Arabs are genetically diverse despite their linguistic and religious cohesion. High but variable rates of inbreeding prevail in all Arab countries with numerous examples of isolates among them. These include some Bedouin groups, Nubians, Druze, Jews, and others. Arab populations have high frequencies of autosomal recessive disorders, homozygosity of autosomal dominant and X-linked traits, and a wealth of new syndromes and variants, the majority of which are autosomal recessive. Genetic disorders that cause major health problems include hemoglobinopathies, neurogenetic disorders, inherited metabolic diseases, and inborn error of morphogenesis. Because of their characteristically high prevalence, some of these disorders are considered markers for Arab populations. This book presents the unique profile of genetic disorders and variants in Arabs. In addition, it describes their unusual demographic pattern including fertility rates and other population dimensions, family structure, magnitude and effects of consanguineous marriages and indicators of health and disease. Genetic counseling and the distinctive cultural and religious attitudes towards various genetic issues are also presented. Disorders that have increased tribal occurrences or are limited to large kindreds, as well as small geographic or religious isolates, are highlighted to facilitate their recognition, study, and management. |
| chromosome abnormalities and genetic counseling 5th edition: Bone Dysplasias Jürgen W. Spranger, Paula W. Brill, Christine Hall, Gen Nishimura, Andrea Superti-Furga, Sheila Unger, 2018 The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs Brilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians. --Radiology This updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. Organized in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders, this new Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders. |
| chromosome abnormalities and genetic counseling 5th edition: Textbook of Fetal Abnormalities Peter Twining, David W. Pilling, 2000 TEXTBOOK OF FETAL ABNORMALITIES is a highly illustrated text covering the diagnostic imaging of fetal abnormalities. Written by experts in the field, it provides the most current, up-to-date information on antenatal diagnosis. This comprehensive and authoritative text takes a practical approach to the subject, guiding the reader step-by-step through the problems involved and offering guidance to the correct diagnosis. Ultrasound scans and line drawings are also included. |
| chromosome abnormalities and genetic counseling 5th edition: Essential Medical Genetics, Includes Desktop Edition Edward S. Tobias, Michael Connor, Malcolm Ferguson-Smith, 2011-03-21 Adopted at Cambridge University Essential Medical Genetics provides students, clinicians, counsellors and scientists with the up-to-date information they need regarding the basic principles underlying medical genetics. It also provides guidance on how to apply current knowledge in clinical contexts, covering a wide variety of topics: from genome structure and function to mutations, screening and risk assessment for inherited disorders. This sixth edition has been substantially updated to include, for instance, the latest information on the Human Genome Project as well as several new molecular genetic and chromosome analysis techniques. In full colour throughout, it includes a number of brand new features, including: a large number of self-assessment questions; 'Essentials' chapter summaries; further reading suggestions; and case study scenarios introducing clinical situations. An invaluable new section gives illustrated practical advice regarding how to choose the best available online genetic databases and also, importantly, how to most easily and most efficiently use them, for a wide range of purposes. Essential Medical Genetics is the perfect resource for a course on medical genetics, and is now accompanied by a regularly updated website and the FREE enhanced Wiley Desktop Edition (upon purchase of the book). The companion website at www.wiley.com/go/tobias features figures from the book in PowerPoint format and a link to the authors' website with regularly updated links to genetic databases and additional self-test questions. This title is also available as a mobile App from MedHand Mobile Libraries. Buy it now from iTunes, Google Play or the MedHand Store. |
| chromosome abnormalities and genetic counseling 5th edition: A Short History of Medical Genetics Peter S. Harper, 2008 This book traces the development of genetics in medicine from the first descriptions of inherited diseases more than 300 years ago to the new applications resulting from mapping and sequencing the human genome. It follows both the scientific and the medical advances, focusing especially on those of the past 50 years, which have seen the field of medical genetics emerge as one of the foremost and most rapidly changing medical specialties, now influencing the whole of medicine. It also examines the ethical challenges faced by those working in the field, and describes some of the past disasters that have resulted from these being ignored, notably the abuses of eugenics and the catastrophic destruction of genetics in Soviet Russia. This is the first book of its kind; it is clearly and simply written, and will be valuable to all those who have an interest or concern in the development of medical genetics, as well as those actually working in the field. Historians and social scientists will likewise find this book an important foundation for future detailed studies, which are urgently needed.--BOOK JACKET. |
| chromosome abnormalities and genetic counseling 5th edition: Avery's Diseases of the Newborn - E-Book Taylor Sawyer, Christine A. Gleason, 2023-03-20 Completely revised and updated, Avery's Diseases of the Newborn, 11th Edition, remains your #1 choice for clinically focused, cutting-edge guidance on the evaluation, diagnosis, and treatment of diseases of the newborn. Drs. Christine A. Gleason, Taylor Sawyer, and a team of expert contributing authors provide comprehensive, up-to-date coverage of every key disease and condition affecting newborns, keeping you current in this fast-changing field. You'll find the specific strategies you need to confidently provide care for this unique patient population, in a full-color, easy-to-use single volume that focuses on key areas of practice. - Reflects the latest developments on all aspects of newborn evaluation and management, featuring new content, new chapters, new contributors, and fresh perspectives from a new co-editor. - Brings you the latest on current topics such as perinatal/neonatal COVID-19, genomics and precision medicine, acute and chronic neonatal respiratory disorders, brain injury and neuroprotection, necrotizing enterocolitis, probiotics, palliative care, prenatal drug exposure, retinopathy of prematurity, and more. - Provides clinically relevant, practical guidance in concise, focused chapters that include summary boxes, suggested readings, and more than 500 full-color illustrations, micrographs, and photographs. - Contains the 2020 American Academy of Pediatrics and American Heart Association neonatal resuscitation guidelines and the 2022 American Academy of Pediatrics guidelines on the management of hyperbilirubinemia. - Serves as a reliable quick reference for clinical questions and an excellent resource for board review. - Any additional digital ancillary content may publish up to 6 weeks following the publication date. |
| chromosome abnormalities and genetic counseling 5th edition: Prenatal Diagnostic Testing for Genetic Disorders Gian Carlo Di Renzo, 2023-07-21 This comprehensive volume covers all aspects of the revolution in prenatal diagnosis brought about by the introduction of non-invasive prenatal testing (NIPT), which primarily relies on the detection of free fetal DNA circulating in maternal blood from the early stages of pregnancy. The book explores the potential of NIPT to provide full genome screening of the fetus and identify many common or rare disorders. The counseling process, as well as the limitations and pitfalls of various techniques used to perform NIPT, are described, evaluated, and critically discussed by renowned international experts. The book also compares the new technology with more conventional tests, preimplantation diagnosis, and the invasive procedures currently in use. This book will be a valuable resource for gynecologists, obstetricians, geneticists, maternal-fetal medicine specialists, pathologists, neonatologists, reproductive medicine specialists, midwives, and anyone interested in prenatal genetic diagnosis. |
| chromosome abnormalities and genetic counseling 5th edition: Fetal Morph Functional Diagnosis Hideaki Masuzaki, 2020-12-05 This book explores the recent clinical and research findings in the field of prenatal screening and diagnosis. It presents new devices and tests such as real-time 3D ultrasound, ultrafast fetal MRI, and next-generation sequencing and discusses genetic counseling and fetal therapy. Written by pioneering scientists, the book is divided into six themed parts: ultrasound examination, genetic tests, genetic disorders, chromosomal diseases, genetic counseling, and techniques, presenting carefully prepared original data.This thought-provoking, instructive and informative book is intended for geneticists, obstetricians, pediatricians, genetic counselors and nurses. Although the incidence of congenital abnormalities such as structural, chromosomal and genetic disorders is very low, it is important to have accurate information on their incidence and likely outcome, and on the screening and diagnosis of congenital abnormalities during pregnancy care. This book provides valuable insights into prenatal screening, genetic counseling and fetal diagnosis. |
| chromosome abnormalities and genetic counseling 5th edition: Recent Advances in Paediatrics - 29 Gautam Kulkarni, 2023-03-10 Recent Advances in Paediatrics-29 features an outstanding collection of articles relevant to paediatricians and health professionals working with children and adolescents across the world. The book reflects the changing landscape in paediatrics, with significant emphasis on adolescent health, both physical and mental, and references the role of technology and innovations such as conversational artificial intelligence (AI) and ChatGPT in improving outcomes. Other topics include prenatal screening and diagnosis of genetic defects, advances in neonatal care, a systematic approach towards orthopaedic management of cerebral palsy, bone health and osteoporosis, as well as advances in surgery and urology. The text features chapters on “safer care for sick children” with the role of safety checklists and escalation of care using hub and spoke models covered in depth to encourage universal high standards of care. This book is a compelling read for medical students explaining aspects of paediatrics often not covered in conventional textbooks, and furthermore provides an effective revision tool for DCH and MRCPCH examinations. It will also be of interest to practising clinicians wishing to keep up to date with the latest advances in their field. All chapters are written by expert authors ensuring authoritative and accurate content, and full colour photographs supplement enhance the comprehensive text. |
Chromosome - Wikipedia
A chromosome is a package of DNA containing part or all of the genetic material of an organism. In most chromosomes, the very long thin DNA fibers are coated with nucleosome-forming …
Chromosomes Fact Sheet - National Human Genome Research …
Aug 15, 2020 · Each chromosome is made of protein and a single molecule of deoxyribonucleic acid (DNA). Passed from parents to offspring, DNA contains the specific instructions that make …
Chromosome - Definition, Function & Structure - Biology Dictionary
Oct 4, 2019 · A chromosome is a string of DNA wrapped around associated proteins that give the connected nucleic acid bases a structure. During interphase of the cell cycle, the chromosome …
Chromosome | Structure & Function | Britannica
May 10, 2025 · chromosome, the microscopic threadlike part of the cell that carries hereditary information in the form of genes. A defining feature of any chromosome is its compactness.
23 Chromosomes - Functions and Types of Chromosomes
Feb 13, 2024 · There are 23 chromosome pairs in humans. Transporting genetic information from one cell generation to the next is the main function of chromosomes. Several genes on each …
What is a chromosome? - MedlinePlus
Jan 19, 2021 · A chromosome is a thread-like structure made up of DNA. Chromosomes are found in the nucleus of each cell. Learn more.
Chromosomes- Definition, Structure, Types, Model, Functions
Aug 3, 2023 · Each chromosome is made up of DNA tightly coiled many times around proteins called histones that support its structure. Chromosomes were first described by Strasburger …
Genetics, Chromosomes - StatPearls - NCBI Bookshelf
Apr 3, 2023 · A chromosome is a DNA molecule that contains the genetic information for an organism. The chromosomal structure is composed of the organism's DNA and special …
What is a Chromosome? Structure, Function, and Role in Genetics
Apr 17, 2025 · But what exactly is a chromosome? How does it function? Why does it matter so much to life, health, and evolution? The answer lies in a tale that combines ancient mystery, …
What are Chromosomes? - University of Utah
Each chromosome includes a single, linear molecule of DNA with its own set of genes. Chromosomes are numbered according to their size, and genes are arranged along them in a …
Chromosome - Wikipedia
A chromosome is a package of DNA containing part or all of the genetic material of an organism. In most chromosomes, the very long thin DNA fibers are coated with nucleosome-forming …
Chromosomes Fact Sheet - National Human Genome Research …
Aug 15, 2020 · Each chromosome is made of protein and a single molecule of deoxyribonucleic acid (DNA). Passed from parents to offspring, DNA contains the specific instructions that make …
Chromosome - Definition, Function & Structure - Biology Dictionary
Oct 4, 2019 · A chromosome is a string of DNA wrapped around associated proteins that give the connected nucleic acid bases a structure. During interphase of the cell cycle, the chromosome …
Chromosome | Structure & Function | Britannica
May 10, 2025 · chromosome, the microscopic threadlike part of the cell that carries hereditary information in the form of genes. A defining feature of any chromosome is its compactness.
23 Chromosomes - Functions and Types of Chromosomes
Feb 13, 2024 · There are 23 chromosome pairs in humans. Transporting genetic information from one cell generation to the next is the main function of chromosomes. Several genes on each …
What is a chromosome? - MedlinePlus
Jan 19, 2021 · A chromosome is a thread-like structure made up of DNA. Chromosomes are found in the nucleus of each cell. Learn more.
Chromosomes- Definition, Structure, Types, Model, Functions
Aug 3, 2023 · Each chromosome is made up of DNA tightly coiled many times around proteins called histones that support its structure. Chromosomes were first described by Strasburger …
Genetics, Chromosomes - StatPearls - NCBI Bookshelf
Apr 3, 2023 · A chromosome is a DNA molecule that contains the genetic information for an organism. The chromosomal structure is composed of the organism's DNA and special …
What is a Chromosome? Structure, Function, and Role in Genetics
Apr 17, 2025 · But what exactly is a chromosome? How does it function? Why does it matter so much to life, health, and evolution? The answer lies in a tale that combines ancient mystery, …
What are Chromosomes? - University of Utah
Each chromosome includes a single, linear molecule of DNA with its own set of genes. Chromosomes are numbered according to their size, and genes are arranged along them in a …
