'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 Medicine Universally used across the world by genetic counsellors, medical geneticists and clinicians alike, 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 updated information on: developments in common disease genetics, new molecular techniques and genetic counselling, non invasive prenatal diagnosis, the molecular basis of congenital malformations, the history of genetic counselling and the social and ethical aspects of advances in genetics. 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 technology The seventh edition of this popular, best selling text will continue to be an essential source of reference for trainee and practitioner genetic counsellors, medical geneticists and clinicians. It will provide also valuable background for specialist nurses, counsellors, social scientists, ethicists as well as genetics laboratory staff.

About the Author

Peter S. Harper is University Research Professor (Emeritus) in Human Genetics, Institute of Medical Genetics, Cardiff University, Cardiff, UK

Table of Contents

PART I General aspects of genetic counselling 1. Genetic counselling: an introduction 2. Genetic counselling in mendelian disorders 3. Common disorders and genetic counselling 4. Chromosome abnormalities 5. Molecular genetics and genetic counselling 6. Dysmorphology and genetic syndromes 7. Carrier testing and genetic prediction 8. Prenatal diagnosis and reproductive aspects of medical genetics 9. Special issues in genetic counselling 10. The genetic counselling clinic Part II Genetic counselling: specific organ systems 11. Neuromuscular disorders 12. Central nervous system disorders 13. Disorders of mental function 14. Disorders of bone and connective tissue 15. Oral and craniofacial disorders 16. The skin 17. The eye 18. Deafness 19. Cardiovascular and respiratory disorders 20. The gastrointestinal tract 21. Renal and urinary tract disease 22. Endocrine and reproductive disorders 23. Inborn errors of metabolism 24. Disorders of blood and immune function 25. Genetic risks in cancer 26. Environmental hazards Part III Genetic counselling: the wider picture 27. Population aspects of genetic counselling and genetic screening 28. Genetics and society Appendix: Useful information in connection with genetic counselling