Essential Medical Genetics

Essential Medical Genetics gives a balanced introduction to the basic principles of genetics and how it is applied to the understanding and treatment of diseases with a genetic component. Divided into three sections, basic principles, common situations in clinical genetics, and electronic databases, it covers all the information that medical students are taught at both preclinical and clinical level. The third section on electronic databases assists students on how to get the most out of these as they become more and more fundamental to undergraduate courses on genetics. NEW TO THIS EDITION A brand new section on electronic genetics databases, with an illustrated user's guide Further reading suggestions ‘Essentials’ boxes containing key facts, and MCQs Comes with a FREE enhanced Wiley Desktop Edition Ed Tobias , Senior Clinical Lecturer and Honorary Consultant in Medical Genetics, University of Glasgow, Yorkhill, Glasgow Michael Connor , Professor of Medical Genetics, University of Glasgow, and Director of the West of Scotland Regional Genetics Service, Institute of Medical Genetics, Yorkhill, Glasgow Malcolm Ferguson-Smith , Emeritus Professor of Pathology, University of Cambridge and formerly Director of the East Anglia Regional Genetics Service, Addenbrooke's Hospital , Cambridge CONTENTS Preface. Acknowledgements. Part 1: Basic Principles. 1 Medical Genetics in Perspective. 2 Human Genome Structure and Function. 3 Nucleic Acid Structure and Function. 4 Molecular Genetic Analysis. 5 Chromosomes. 6 Gametogenesis. 7 Chromosome Aberrations. 8 Typical Mendelian Inheritance. 9 Atypical Mendelian Inheritance. 10 Non-Mendelian Inheritance. 11 Medical Genetics in Populations. Part 2: Common Situations in Clinical Genetics. 12 Genetic Assessment, Genetic Counselling and Reproductive Options. 13 Family History of Cancer. 14 Family History of Common Adult-onset Disorder. 15 Strong Family History - Typical Mendelian Disease. 16 Strong Family History - Other Inheritance Mechanisms. 17 Screening for disease and for carriers. 18 Family History of One or More Congenital Malformations. Part 3: Electronic Databases - A User's Guide. 19 Electronic databases - A user's guide. Glossary. Index.