Auteur : Harper, Peter S.

Édition : 7th edition

Maison d'édition : Hodder Arnold

Date de publication : 2010

Collation : 407 p. : ill.

ISBN : 9780340990698

Langue : Anglais

Table des matières : 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 -- 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 -- 27. Population aspects of genetic counselling and genetic screening -- 28. Genetics and society
Appendix : Useful information in connection with genetic counselling

Résumé : 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.

Mots-clés : Génétique médicale / Maladies génétiques

Cote : QZ 50 H295p 2010