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.
Inhalt
Preface to First Edition
Preface to Second Edition
1. Introduction
2. Elementary Genetics
3. Principles of Derivation of Risk Estimates
4. Risk Estimates in Respect of Autosomal Dominant Gene Traits
5. Counselling X-Linked Recessive Gene Traits
6. Risk Estimates-Autosomal Recessive Gene Traits
7. Consanguinity
8. Disorders due to Chromosomal Anomalies
9. Defects and Disorders of the Central Nervous System
10. Defects and Disorders of the Eyes
11. Mental Defect and Mental Illness
12. Deafness
13. Disorders of Muscles
14. Disorders Predominantly Affecting the Skeleton
15. Defects and Disorders of the Alimentary Tract
16. Defects and Disorders of the Urogenital System
17. Defects and Disorders of the Cardiovascular System
18. Hereditary Disorders of the Skin and Integument
19. Metabolic Disorders
20. Hereditary Disorders of the Blood
21. Neoplasms
22. Risks to Outcome of Pregnancy and Effects of Mutagenic and Teratogenic Agents
23. Some Syndromes and some Miscellaneous Conditions
24. Our Patients and Their Problems
Appendix 1 Autosomal Dominant Traits not Invariably Penetrant
Appendix 2 Estimation of Penetrance
Appendix 3 Genetic Risks X-Linked Traits-Further Problems
Appendix 4 Calculation of Coefficients of Inbreeding
Appendix 5 Glossary
Index