Harper's Practical Genetic Counselling

ISBN-13: 9780367371906 / Angielski / Twarda / 2019 / 542 str.

Angus Clarke

Opis

Preceded by Practical genetic counselling / Peter S. Harper. 7th ed. 2010.

Spis treści

PART 1: General Aspects of Genetics and Genetic Counselling. 1. Genetics and Genetic Counselling: An Introduction. 2. Genetic Counselling in Mendelian Disorders. 3. Common Disorders and Genetic Counselling. 4. Chromosome Abnormalities. 5. Genetic and Genomic Investigations. 6. Dysmorphology and Genetic Syndromes. 7. Carrier Testing. 8. Predictive Genetic Testing. 9. Prenatal Diagnosis, Antenatal Screening and Reproductive Aspects of Medical Genetics. 10. Special Issues in Genetic Counselling. 11. Clinical Genetics Services. 12. Treatments and Trials for Genetic Disease. PART 2: Genetic Counselling: Specific Organ Systems. 13. Neuromuscular Disorders. 14. Central Nervous System: Paediatric and Neurodevelopmental Disorders. 15. Central Nervous System: Adult-Onset and Psychiatric Disorders. 16. Disorders of Bone and Connective Tissue. 17. Oral and Craniofacial Disorders.18. The Skin. 19. The Eye. 20. Deafness. 21. Cardiac and Cardiovascular Disorders. 22. Respiratory Disorders. 23. The Gastrointestinal Tract. 24. Renal and Urinary Tract Diseases. 25. Endocrine and Reproductive Disorders. 26. Inborn Errors of Metabolism. 27 Disorders of Blood and Immune Function. 28. Environmental Hazards. PART 3: Genetic Counselling and Testing for Cancer. 29. Cancer as a Genetic Disorder. 30. Colorectal Cancer Syndromes. 31. Breast and Ovarian Cancer. 32. Rare Mendelian Cancer Syndromes and Other Cancers. PART 4: Genetic Counselling in Context: The Broader Picture. 33. Communication in Genetic Councelling. 34. Population Aspects of Genetic Counselling and Genetic Screening. 35. Genetics, Society and the Future. Glossary. Appendix 1: Further Reading and Information. Appendix 2: Practical Genetic Counselling - The Life Story of a Book.

O autorze

Angus Clarke is Clinical Professor, Division of Cancer & Genetics, School of Medicine, University of Cardiff, and Honorary Consultant, All Wales Medical Genetics Service, UK