Preface

vii

Acknowledgements

viii

PART I

GENERAL ASPECTS OF GENETIC COUNSELLING

1

Genetic Counselling: An Introduction

3

2

Genetic Counselling in Mendelian Disorders

23

3

Common Disorders and Genetic Counselling

54

4

Chromosome Abnormalities

63

5

Molecular Genetics and Genetic Counselling

81

6

Dysmorphology and Genetic Syndromes

91

7

Carrier Testing and Genetic Prediction

102

8

Prenatal Diagnosis and Reproductive Aspects of Medical Genetics

115

9

Special Issues in Genetic Counselling

135

10

The Genetic Counselling Clinic

150

PART II

GENETIC COUNSELLING: SPECIFIC ORGAN SYSTEMS

11

Neuromuscular Disorders

167

12

Central Nervous System Disorders

179

13

Disorders of Mental Function

201

14

Disorders of Bone and Con Nective Tissue

216

15

Oral and Craniofacial Disorders

234

16

The Skin

242

17

The Eye

253

18

Deafness

265

19

Cardiovascular and Respiratory Disorders

271

20

The Gastrointestinal Tract

287

21

Renal and Urinary Tract Disease

297

22

Endocrine and Reproductive Disorders

305

23

Inborn Errors of Metabolism

317

24

Disorders of Blood and Immune Function

325

25

Genetic Risks in Cancer

334

26

Environmental Hazards

348

PART III

GENETIC COUNSELLING: THE WIDER PICTURE

27

Population Aspects of Genetic Counselling and Genetic Screening

361

28

Genetics and Society

375

Appendix

Useful Information in Connection with Genetic Counselling

385

Glossary

389

Index

395