Updated to reflect the newest changes in genetics, Thompson & Thompson’s Genetics in Medicine returns as one of the most favored texts in this fascinating and rapidly evolving field. By integrating the classic principles of human genetics with modern molecular genetics, this medical reference book utilizes a variety of learning tools to help you understand a wide range of genetic disorders.

Acquire the state-of-the-art knowledge you need on the latest advances in molecular diagnostics, the Human Genome Project, pharmacogenetics, and bio-informatics. Better understand the relationship between basic genetics and clinical medicine with a variety of clinical case studies. Recognize a wide range of genetic disorders with visual guidance from more than 240 dynamic illustrations and high-quality photos. Immerse yourself in updated graphics, full-color text, illustrations, line diagrams, and clinical photos of genetic diseases. Explore the latest genetic content available in order to remain up to date on the most current trends in the field. Take advantage of a double-page clinical case study section that demonstrates and reinforces general principles of disease inheritance, pathogenesis, diagnosis, management, and counseling. Enhance your critical thinking skills and better retain information. Each chapter ends with up to 5 quick genetic „problems“ related to what has just been reviewed, with answers provided in the back of the book. Student Consult eBook version included with purchase. This enhanced eBook experience allows you to search all of the text, figures, and references from the book on a variety of devices. You’ll also access USMLE-style and multiple choice questions.

For 35 years, Thompson and Thompson Genetics in Medicine has been a favorite genetics textbook for medical students. This long-awaited sixth edition, now in a revised re-print, continues to provide a readable and understandable review of the basic principles of medical genetics, including recent advances in molecular genetics and the clinical applications of this new knowledge for the diagnosis and management of genetic disorders. Now brought completely up to date, this edition has been extensively revised and includes new information on developmental defects, genetics of complex diseases, genetics of cancer, molecular and biochemical basis of genetics, and the human genome project. It also features an all-new set of 29 clinical cases with color photographs to assist students in relating basic genetics to clinical genetic disease. These cases will also help instructors integrate clinical material into their courses. The revised re-print brings this book up to date with all new findings in medical genetics and some additional case studies.

• The most up-to-date and authoritative discussion of the basic principles of medical genetics.
• Continues to be the most readable and accessible text of its kind on the market.
• Unprecedented clinical coverage

 

• „Clinical Cases“ covers 29 of the most commonly seen genetic disorders, with summaries of the key features, causes, and management – complete with color illustrations.
• New information on genetic aspects of development, genetics of complex diseases, genetics of cancer, and molecular and biochemical basis of genetics.
• Up-to-date details on the human genome project.
• Extensive updates on every aspect of medical genetics.

Chapter 1 Introduction

Chapter 2 Introduction to the Human Genome

Chapter 3 The Human Genome: Gene Structure and Function

Chapter 4 Human Genetic Diversity: Mutation and Polymorphism

Chapter 5 Principles of Clinical Cytogenetics and Genome Analysis

Chapter 6 The Chromosomal and Genomic Basis of Disease: Disorders of the Autosomes and Sex Chromosomes

Chapter 7 Patterns of Single-Gene Inheritance

Chapter 8 Complex Inheritance of Common Multifactorial Disorders

Chapter 9 Genetic Variation in Populations

Chapter 10 Identifying the Genetic Basis for Human Disease

Chapter 11 The Molecular Basis of Genetic Disease

Chapter 12 The Molecular, Biochemical, and Cellular Basis of Genetic Disease

Chapter 13 The Treatment of Genetic Disease

Chapter 14 Developmental Genetics and Birth Defects

Chapter 15 Cancer Genetics and Genomics

Chapter 16 Risk Assessment and Genetic Counseling

Chapter 17 Prenatal Diagnosis and Screening

Chapter 18 Application of Genomics to Medicine and Personalized Health Care

Chapter 19 Ethical and Social Issues in Genetics and Genomics

Cases