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Doody's Review ServiceReviewer: Joel Charrow, MD (Children's Memorial Hospital)
Description: This is the second edition of an introductory text on medical genetics covering the basic structure and organization of the human genome, the basic principles of genetics, and the relationships between genes and human disease. This edition provides a welcome expansion and update of the previous edition, which was published in 1990.
Purpose: It is intended to present the basic principles of medical genetics and their application to clinical medicine, although there is clearly greater emphasis on the former than on the latter. It is not, and does not intend to be, a compendium of genetic disorders, but focuses instead on basic principles.
Audience: The authors appropriately describe this book as being of greatest value to first and second year medical students. It may have some value to residents and other physicians who wish to "review" basic principles of genetics.
Features: It is attractively crafted and very nicely illustrated with numerous two-color illustrations and black-and-white photographs. The illustrations very effectively supplement the text. Two pages of color plates illustrate a variety of applications of fluorescence in situ hybridization (FISH). The references are current and appropriate in number and content for the audience, as current review articles and book chapters are frequently cited. At the end of the book there is a very nice glossary and set of study questions (and answers), organized by chapter.
Assessment: Many basic topics in genetics are clearly and concisely presented, particularly in the area of molecular genetics. Important discussions of relatively new topics in genetics, e.g. genomic imprinting, mitochondrial inheritance, and expansion of trinucleotide repeats are included. The coverage of biochemical genetics is more limited, and several important biochemical "themes" are discussed very briefly or not at all (e.g., gene dosage, large- and small-molecule substrate accumulation, haploinsufficiency, dominant negative effects, etc.). The coverage of many important clinical topics is also patchy, with very brief discussions of the mechanisms underlying congenital anomalies, syndromes and sequences, and therapy of genetic diseases. Several topics important to clinical geneticists, but which are not strictly genetic (e.g., teratogens) are not covered at all. It will be most useful as a medical student text, as intended. The above criticisms not withstanding, this remains one of the best texts in its class.