ABC of Clinical Genetics pdf

Table of Contents:

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