Table of Contents

Background and history.
Basic cell biology : structure and function of genes and chromosomes.
Genetic variation : its origin and detection.
Autosomal dominant and recessive inheritance.
Sex-linked and nontraditional modes of inheritance.
Clinical cytogenetics : the chromosomal basis of human disease.
Biochemical genetics : disorders of metabolism.
Disease-gene identification.
Genetic basis of development.
Cancer genetics.
Multifactorial inheritance and common diseases.
Genetic testing and gene therapy.
Genetics and precision medicine.
Clinical genetics and genetic counseling. Popular for its highly visual, clinical approach, Medical Genetics delivers an accessible yet thorough understanding of this active and fast-changing field. Key updates in this new edition cover the latest developments which are integrated with clinical practice to emphasize the central principles and how they apply to practice. Photographs, illustrations, and tables, along with boxes containing patient/family vignettes demonstrate clinical relevance and enhance visual impact of the material for easier and more effective learning and retention.