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Helen M Kingston

ABC OF CLINICAL GENETICS

Contributors vi

Preface vii

1. Clinical genetic services 1

2. Genetic assessment 5

3. Genetic counselling 8

4. Chromosomal analysis 14

5. Common chromosomal disorders 18

6. Mendelian inheritance 25

7. Unusual inheritance mechanisms 30

8. Estimation of risk in mendelian disorders 35

9. Detection of carriers 39

10. Single gene disorders 45

11. Genetics of cancer 56

12. Genetics of common disorders 63

13. Dysmorphology and teratogenesis 68

14. Prenatal diagnosis 73

15. DNA structure and gene expression 78

16. Gene mapping and molecular pathology 82

17. Techniques of DNA analysis 88

18. Molecular analysis of mendelian disorders 94

19. Treatment of genetic disorders 99

20. The internet and human genetics 104

Websites 106

Glossary 108

Further reading list 112

Index 114