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Medical Genetics: Principles and Practice

Joe Leigh Simpson, MD
JAMA. 1982;247(20):2834-2835. doi:10.1001/jama.1982.03320450066047.
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Now in its second edition, this text is one of very few that bravely proposes not only to explain genetic principles but also to survey genetic disorders. The authors hope that "the book will continue to find its place in medical school classrooms, clinics, and counseling."

The book begins with cytogenetics. Principles are lucidly reviewed and clinical syndromes surveyed. However, the section seems somewhat dated. Despite acknowledging standardized nomenclature, the authors refer to Y-chromatin as "fluorescent Y," retain the antiquated use of "XO," and sometimes fail to use other symbols appropriately. On occasion, empiric figures need updating, and no year-by-year maternal age risk figures are provided.

Mendelian inheritance is explained so completely that geneticists should pay attention. On the other hand, three chapters providing brief descriptions of Mendelian disorders (listed alphabetically) will interest mostly trainees; illustrative photographs are handsome, but details are insufficient for definitive diagnosis, counseling, and management. Following


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