Emery's Elements of Medical Genetics
Emery's Elements of Medical Genetics,
Edition 15
By Peter D Turnpenny, BSc, MB, ChB, FRCP, FRCPCH and Sian Ellard, BSc, PhD, MRCPath

Publication Date: 06 Feb 2017

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Everything a student needs to know about medical genetics is here in the 15th edition of this award-winning textbook. Thoroughly updated and revised throughout to map a fast-moving area, the 15th edition continues Emery’s enviable reputation for successfully balancing up-to-dateness in a rapidly developing field with a strong basis in practical clinical genetics for medical students. With MCQs and Case-Based Review Questions, end of chapter summaries and convenient online access, it is the essential tool for this complex but foundational topic for all medical undergraduates, as well as postgraduates seeking to improve their understanding and knowledge.

Key Features

On StudentConsult, giving you two books for one. Download your StudentConsult e-book to your laptop or mobile for portability and 24-7 access.

Divided into three restructured sections to make the book easier to use for a variety of readers: Scientific Basis of Human Genetics; Genetics in Medicine and Genomic Medicine; Clinical Genetics, Counselling and Ethics

•Interactive self-assessment questions

•Case-based questions

•Online hyperlinks to important genetics websites and clinical databases.

•Update of clinical figures to include more full-colour images

•An extensive glossary of terms

•Full colour art to visualise the appearance of genetic disorders and assist with the understanding of complex genetic structures

•Explore the social, ethical and counselling issues surrounding the study and treatment of genetic disorders.

•Elements boxes at the end of each chapter summarizing the basics at a glance.

About the author
By Peter D Turnpenny, BSc, MB, ChB, FRCP, FRCPCH, Consultant Clinical Geneticist, Royal Devon and Exeter Hospital Senior Clinical Lecturer, Peninsula Medical School, Exeter, UK and Sian Ellard, BSc, PhD, MRCPath, Consultant Clinical Molecular Geneticist, Royal Devon and Exeter Hospital Professor of Human Molecular Genetics, Peninsula Medical School, Exeter, UK
Table of Contents



1 The history and impact of genetics in medicine

A. The Scientific Basis of Human Genetics

2 The cellular and molecular basis of inheritance

3 Chromosomes and cell division

4 Finding the cause of monogenic disorders by identifying disease genes

5 Laboratory techniques for diagnosis of monogenic disorders

6 Patterns of inheritance

7 Population and mathematical genetics

8 Risk calculation

9 Developmental genetics

B. Genetics in Medicine and Genomic Medicine

10 Common disease, polygenic and multifactorial genetics

11 Screening for genetic disease

12 Hemoglobin and hemoglobinopathies

13 Immunogenetics

14 The genetics of cancer … and cancer genetics

15 Pharmacogenetics, personalised medicine, and the treatment of genetic disease

C. Clinical Genetics, Counseling and Ethics

16 Congenital abnormalities, dysmorphic syndromes, and learning disability

17 Chromosome disorders

18 Inborn errors of metabolism

19 Mainstream monogenic disorders

20 Prenatal testing and reproductive genetics

21 Genetic counseling

22 Ethical and legal issues in medical genetics


Appendix of websites


Case-Based Qs

MCQ Answers

Case-Based Q Answers


Book Reviews
"This is a complete and well-organized compilation of information that can be used as the foundation of any medical genetics course…. This book is considered a necessary resource in the field of medical genetics. It is extremely helpful and should be on the shelves of all genetics clinicians, and it is a unique guide for teachers of medical genetics." Reviewed by Luis F. Escobar, MD, MS (St. Vincent Hospital and Health Care Center) Doody's Score: 100, 5 Stars!
Book details
ISBN: 9780702066856
Page Count: 406
Illustrations: Approx. 310 illustrations (200 in full color)
Retail Price: €44.99