A Comprehensive Primer on Medical Genetics

This is a programmed learning, problem-solving, technical textbook comprehensively covering all the core concepts, uniquely including mathematical aspects in step-by-step detail, needed to understand and practice medical genetics. Opening chapters introduce the basics of genetics, including the mechanism and epidemiology of genetic diseases. Chapters 5 to 8 describe clinical and laboratory diagnostic techniques. Chapter 9 is on genetic uniqueness and twinning. Chapter 10 reviews the principles and problems of developmental genetics, leading into a chapter on congenital anomalies supplemented by the special appendix on syndrome identification. The next five chapters cover stature abnormalities, mental retardation, epilepsy, blindness, deafness, cancer, diabetes, hypertension, atherosclerosis, Alzheimer s disease, and alcoholism as well as the more unusual disorders. The final chapters cover pharmacogenetics, genetic therapeutics, prenatal diagnosis, genetic counseling and ethics, and public health aspects of medical genetics. The appendices include charts of norms, essentials of record keeping, and rarely found instruction on syndrome identification in disorders of multiple congenital anomalies. The text includes bibliographic references and index and the author s especially fine original drawings designed for teaching.