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Dr. Chen shares his almost 40 years of clinical genetics practice in a comprehensive pictorial atlas of almost 250 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available. The Atlas of Genetic Diagnosis and Counseling will help all physicians to understand and recognize genetic diseases and malformation syndromes and better evaluate, counsel, and manage affected patients. In this new edition, 47 additional genetic disorders are added, as well as extensive updates made to the previous disorders. New illustrations, as previous edition, will be supplemented by case and family history, clinical features, and laboratory data, especially molecular confirmation.

Genetic counseling --- Genetic disorders --- Scientific atlases. --- Diagnosis

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Highly valued across the world by genetic counsellors, medical geneticists and other healthcare professionals, Harper's Practical Genetic Counselling has established itself over previous editions as the essential guide to counselling those at risk from inherited disorders. Fully revised by its new author Angus Clarke, and with additional input from colleagues, this eighth edition provides indispensable and up-to-date guidance, helping readers to navigate the profusion of new information in this area and the associated psychosocial and ethical considerations and concerns. Maintaining the trusted framework of earlier editions, the update presents the latest information on the use and interpretation of genetic test results, including new genome-based investigations and their application in the genetic counselling process. This book will help both the student and the practitioner, as genetic and genomic investigations become progressively more relevant to all healthcare professionals with the mainstreaming of genetics across the full range of medical practice. Key features: Provides the very latest information in a tried and tested format for speedy access in the busy consulting room or clinic Includes new and expanded chapters on laboratory genetic investigation, gene-based "rational" approaches to treatment, population genetic screening and the use of cell-free DNA in prenatal genetic testing, reflecting the rapid development of knowledge in these areas Delivers clear and authoritative advice, applicable to everyday clinical practice The eighth edition of this best-selling text will continue to be an essential source of reference for trainee and practitioner genetic counsellors and medical geneticists, for clinicians and nurses working in mainstream specialties who increasingly are dealing with the genetic aspects of disease, and for practitioners working in settings where referral to a genetics specialist is not readily available. It also provides invaluable background for other health care professionals, counsellors, social scientists, ethicists and genetics laboratory staff.

Genetic Counseling --- Genetic Techniques --- Genetic Diseases, Inborn --- Maladies héréditaires --- Génétique médicale --- Dépistage génétique --- methods --- genetics --- Aspect génétique. --- Méthodologie. --- Erfelijkheidsleer --- Counseling --- Genetic diseases, inborn, genetics --- Genetic Technic --- Genetic Technics --- Genetic Technique --- Technic, Genetic --- Technics, Genetic --- Technique, Genetic --- Techniques, Genetic --- Genetics --- Genetic Phenomena --- Genetic Techniques.

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Genetic Techniques --- Genetic Phenomena --- Genetics --- Molecular genetics --- Genetic Technic --- Genetic Technics --- Genetic Technique --- Technic, Genetic --- Technics, Genetic --- Technique, Genetic --- Techniques, Genetic --- Genetic Counseling --- Genetic Concepts --- Genetic Phenomenon --- Genetic Process --- Genetic Processes --- Concept, Genetic --- Concepts, Genetic --- Genetic Concept --- Phenomena, Genetic --- Phenomenon, Genetic --- Process, Genetic --- Processes, Genetic --- Molecular Biology --- Biology --- Embryology --- Mendel's law --- Adaptation (Biology) --- Breeding --- Chromosomes --- Heredity --- Mutation (Biology) --- Variation (Biology) --- Molecular biology --- Genetic research --- Research --- Methodology --- methods --- 575 --- 575 General genetics. General cytogenetics. Immunogenetics. Evolution. Speciation. Phylogeny --- General genetics. General cytogenetics. Immunogenetics. Evolution. Speciation. Phylogeny