Medical Genetics at a Glance

Preface to the first edition. Preface to the second edition. Acknowledgements. List of abbreviations. Part 1 Cellular, molecular and. developmental biology. 1 Introduction and basic biology. 2 The cell. 3 The chromosomes. 4 DNA structure. 5 DNA replication. 6 RNA structure. 7 Production of messenger RNA. 8 Protein synthesis. 9 The cell cycle. 10 Gametogenesis. 11 Embryology. 12 Body patterning. 13 Sexual differentiation. Part 2 Medical genetics. 14 The place of genetics in medicine. 15 Mendel's laws. 16 Autosomal dominant inheritance, principles. 17 Autosomal dominant inheritance, clinical examples. 18 Autosomal recessive inheritance, principles. 19 Autosomal recessive inheritance, clinical examples. 20 Aspects of dominance. 21 Genomic imprinting and dynamic mutation. 22 X-linked inheritance. 23 Sex-related disorders other than X-linked. 24 Autosomal aneuploidies. 25 Sex chromosome aneuploidies. 26 Chromosome structural abnormalities. 27 Chromosome structural abnormalities, clinical examples. 28 Congenital abnormalities, pre-embryonic, embryonic and of. intrinsic causation. 29 Congenital abnormalities arising at the fetal stage. 30 Principles of multifactorial disease. 31 Multifactorial disease in children. 32 The common disorders of adult life. 33 Twin studies. 34 Normal polymorphism. 35 Allele frequency. 36 Genetic linkage. 37 Gene mapping. 38 Mutagenesis and DNA repair. 39 Mutations. 40 The molecular biology of cancer. 41 Familial cancers. 42 Immunogenetics. 43 Genetic disorders of the immune system. 44 Biochemical genetics: part 1. 45 Biochemical genetics: part 2. Part 3 Clinical applications of genetics. 46 Clinical applications of genetics: an overview. 47 Pedigree drawing. 48 Risk assessment. 49 Dysmorphology. 50 Chromosome analysis. 51 Biochemical diagnosis. 52 Reproductive genetic counselling. 53 Prenatal sampling. 54 Clinical application of linkage. 55 DNA sequencing. 56 Southern blotting. 57 The polymerase chain reaction. 58 DNA profiling. 59 Management of genetic disease. 60 Avoidance and prevention of disease. 61 Ethical and social issues in clinical. genetics. Self-assessment case studies: questions. Self-assessment case studies: answers. Glossary. Appendix: information sources and resources. Index