
- 368 pages
- English
- PDF
- Available on iOS & Android
Genetic Counselling
About this book
Genetic Counselling, Second Edition covers genetic counseling, which is mainly concerned with advising people about the risk that a member of a family will suffer from a congenital or hereditary disorder. This edition updates topics such as the advent of differential staining of chromosomes and extensive use of amniocentesis and other techniques in pre-natal diagnosis. When considering defects and disorders, an attempt is made to indicate where risk estimates should present no problems to the practicing physician, and where, by reason of genetical, statistical, or diagnostic complexities, it may be advisable to seek some specialist opinion. This book concentrates on such estimations of risk, emphasizing that pre-requisites for adequate estimations of risks are as accurate a diagnosis as possible. The mechanisms of inheritance of the trait or availability of data on which to base empirical estimates are also deliberated. This publication is intended as a guide to clinicians and as an aide-memoire to medical geneticists.
Frequently asked questions
- Essential is ideal for learners and professionals who enjoy exploring a wide range of subjects. Access the Essential Library with 800,000+ trusted titles and best-sellers across business, personal growth, and the humanities. Includes unlimited reading time and Standard Read Aloud voice.
- Complete: Perfect for advanced learners and researchers needing full, unrestricted access. Unlock 1.4M+ books across hundreds of subjects, including academic and specialized titles. The Complete Plan also includes advanced features like Premium Read Aloud and Research Assistant.
Please note we cannot support devices running on iOS 13 and Android 7 or earlier. Learn more about using the app.
Information
Table of contents
- Front Cover
- Genetic Counselling
- Copyright Page
- Table of Contents
- Preface to First Edition
- Preface to Second Edition
- Chapter 1. INTRODUCTION
- Chapter 2. ELEMENTARY GENETICS
- Chapter 3. PRINCIPLES OF DERIVATION OF RISK ESTIMATES
- Chapter 4. RISK ESTIMATES IN RESPECT OF AUTOSOMAL DOMINANT GENE TRAITS
- Chapter 5. COUNSELLING X-LINKED RECESSIVE GENE TRAITS
- Chapter 6. RISK ESTIMATESāAUTOSOMAL RECESSIVE GENE TRAITS
- Chapter 7. CONSANGUINITY
- Chapter 8. DISORDERS DUE TO CHROMOSOMAL ANOMALIES
- Chapter 9. DEFECTS AND DISORDERS OF THE CENTRAL NERVOUS SYSTEM
- Chapter 10. DEFECTS AND DISORDERS OF THE EYES
- Chapter 11. MENTAL DEFECT AND MENTAL ILLNESS
- Chapter 12. DEAFNESS
- Chapter 13. DISORDERS OF MUSCLES
- Chapter 14. DISORDERS PREDOMINANTLY AFFECTING THE SKELETON
- Chapter 15. DEFECTS AND DISORDERS OF THE ALIMENTARY TRACT
- Chapter 16. DEFECTS AND DISORDERS OF THE UROGENITAL SYSTEM
- Chapter 17. DEFECTS AND DISORDERS OF THE CARDIOVASCULAR SYSTEM
- Chapter 18. HEREDITARY DISORDERS OF THE SKIN AND INTEGUMENT
- Chapter 19. METABOLIC DISORDERS
- Chapter 20. HEREDITARY DISORDERS OF THE BLOOD
- Chapter 21. NEOPLASMS
- Chapter 22. RISKS TO OUTCOME OF PREGNANCY AND EFFECTS OF MUTAGENIC AND TERATOGENIC AGENTS
- Chapter 23. SOME SYNDROMES AND SOME MISCELLANEOUS CONDITIONS
- Chapter 24. OUR PATIENTS AND THEIR PROBLEMS
- Appendix 1: AUTOSOMAL DOMINANT TRAITS NOT INVARIABLY PENETRANTāMORE COMPLEX COUNSELLING SITUATIONS
- Appendix 2: ESTIMATION OF PENETRANCE
- Appendix 3: GENETIC RISKS X-LINKED TRAITSāFURTHER PROBLEMS
- Appendix 4: CALCULATION OF COEFFICIENTS OF INBREEDING
- GLOSSARY
- Index