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 geneticists and clinicians alike, Harper's Practical Genetic Counselling has established itself as the essential guide to counselling those at risk from inherited disorders.Increasingly, common disorders are known to have a genetic component and this book provides invaluable and up to date guidance through the profusion of new information in this area and the associated psychosocial and ethical considerations and concerns.Within its established, tried and trusted framework, the book contains new chapters on: laboratory methods, new genetic sequencing techniques and the applications of genome-wide SNP association studies, genetic susceptibility, cross cultural aspects and the genetic counselling process. It has expand chapters on genetic screening and screening of newborn, treatment techniques and rational approaches to treatment, non-Mendelian inheritance, free fetal DNA in prenatal screening and diagnosis.Key features:- Fully updated to provide the very latest information when in a busy consulting room or clinic- Clear and authoritative advice applicable to everyday clinical practice- Reflects the rapid development of knowledge in this area, including the implications of the human genome project and related technologyThe eighth edition of this popular, best selling text continues to be an essential source of reference for trainee and practitioner genetic counsellors, medical geneticists and clinicians. Also it provides valuable background for specialist nurses, counsellors, social scientists, ethicists as well as genetics laboratory staff.
Indice testuale
General Aspects of Genetic Counseling. Genetic Counseling: An Introduction. Genetic Counseling in Mendelian Disorders. Common Disorders and Genetric Counseling. Chromosome Abnormalities. Molecular Genetics and Genetic Counselling. Dysmorpology and Genetic Syndromes. Carrier Testing and Genetic Prediction. Prenatal Diagnosis and Reproductive Aspects of Medical Genetics. Special Issues in Genetic Counseling. The Genetic Counseling Clinic. Genetic Counselling: Specific Organ Systems. Neuromuscular Disorders. Central Nervous System Disorders. Disorders of Mental Function. Disorders of Bone and Connective Tissue. Oral and Craniofacial Disorders. The Skin. The Eye. Deafness. Cardiovascular and Respiratory Disorders. The Gastrointestinal Tract. Renal and Urinary Tract Disease. Endocrine and Reproductive Disorders. Inborn Errors of Metabolism. Disorders of Blood and Immune Function. Genetic Risks in Cancer. Environmental Hazards. Genetic Counselling: The Wider Picture. Population Aspects of Genetic Counselling and Genetic Screening. Genetics and Society. Appendix: Useful Information in Connection with Genetic Counseling. Glossary. Index.
