416 pages | 100 B/W Illus.
'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.
- 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.
General Aspects of Genetic Counselling
Genetic Counselling: an Introduction
Genetic Counselling in Mendelian Disorders
Common Disorders and Genetic Counselling
Molecular Genetics and Genetic Counselling
Dysmorphology and Genetic Syndromes
Carrier Testing and Genetic Prediction
Prenatal Diagnosis and Reproductive Aspects of Medical Genetics
Special Issues in Genetic Counselling
The Genetic Counselling Clinic
Genetic Counselling: Specific Organ Systems
Central Nervous System Disorders
Disorders of Mental Function
Disorders of Bone and Connective Tissue
Oral and Craniofacial Disorders
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
Genetic Counselling: the Wider Picture
Population Aspects of Genetic Counselling and Genetic Screening
Genetics and Society
Appendix: Useful Information in Connection with Genetic Counselling