Medical Genetics E-Book

Front Cover
Elsevier Health Sciences, Sep 27, 2019 - Medical - 368 pages

Up to date and extensively revised to reflect recent advances in the genetics of common diseases, as well as current progress in gene therapy, Medical Genetics, 6th Edition, delivers easy-to-read, highly visual coverage of this rapidly changing field. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more – all designed to enhance effective learning and retention of complex material.

  • Discusses current topics including polygenic risk scores and their potential applications for diabetes, cancer, and heart disease, and the latest sequencing technologies and their clinical application in genetic testing and diagnosis.
  • Offers a completely updated discussion of genetic testing modalities and applications.
  • Includes convenient concept summaries, more than 230 photographs, illustrations, and tables, as well as patient/family vignettes that present valuable perspectives on disease and treatment.
  • Features Clinical Commentary boxes that demonstrate how the hard science of genetics has real applications to everyday patient problems, preparing you for problem-based integrated courses.
  • Illustrates key concepts with disease examples to demonstrate relevance to medicine.
  • Provides study questions for self-assessment, as well as 200 additional USMLE-style questions online.
  • Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
 

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Contents

1 Background and History
1
Structure and Function of Genes and Chromosomes
5
Its Origin and Detection
25
4 Autosomal Dominant and Recessive Inheritance
55
5 SexLinked and Nontraditional Modes of Inheritance
73
The Chromosomal Basis of Human Disease
97
Disorders of Metabolism
126
8 DiseaseGene Identification
146
11 Cancer Genetics
205
12 Multifactorial Inheritance and Common Diseases
225
13 Genetic Testing and Gene Therapy
249
14 Genetics and Precision Medicine
275
15 Clinical Genetics and Genetic Counseling
283
Glossary
304
Answers to Study Questions
319
Index
329

9 Immunogenetics
170
10 Genetic Basis of Development
185

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