Genetic Counselling

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.

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