Essential Medical Genetics provides students, clinicians, counsellors and scientists
with the up-to-date information they need regarding the basic principles underlying
medical genetics. It also provides guidance on how to apply current knowledge
in clinical contexts, covering a wide variety of topics: from genome structure
and function to mutations, screening and risk assessment for inherited disorders.
This sixth edition has been substantially updated to include, for instance, the latest information on the Human Genome Project as well as several new molecular genetic and chromosome analysis techniques. In full colour throughout, it includes a number of brand new features, including: a large number of self-assessment questions; ‘Essentials’ chapter summaries; further reading suggestions; and case study scenarios introducing clinical situations. An invaluable new section gives illustrated practical advice regarding how to choose the best available online genetic databases and also, importantly, how to most easily and most efficiently use them, for a wide range of purposes.
Essential Medical Genetics is the perfect resource for a course on medical genetics, and is now accompanied by a regularly updated website and the FREE enhanced Wiley Desktop Edition (upon purchase of the book).
The companion website at www.wiley.com/go/tobias features figures from the book in PowerPoint format and a link to the authors' website with regularly updated links to genetic databases and additional self-test questions.
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
Reviews of the previous edition
"This book is an easy to read, well illustrated introduction to medical genetics. It deals nicely with all the classical aspects of the subject..." Black Bag, Medical Students' Society of Bristol University - "...a justifiably popular introductory text." The British Medical Journal
Table of Contents
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.
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.
Edward S. Tobias, Senior Clinical Lecturer in Medical Genetics,
University of Glasgow, and Honorary Consultant in Medical Genetics, West of
Scotland Regional Genetics Service, Institute of Medical Genetics, 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