Reviewer: Joel Charrow, MD (Children's Memorial Hospital)
Description: This is a new edition of a concise overview of medical genetics; the last edition appeared in 1991. The book is divided into two sections: basic principles and clinical applications.
Purpose: The book is apparently intended to be both a textbook and reference on the basic principles of medical genetics and genetic disorders.
Audience: It is targeted primarily to medical students, although the authors suggest it may be of value to clinicians, scientists, counselors, and teachers. It will probably be most useful in a medical school curriculum, where the basic principles section will be supplemented by a course in biochemistry, and where the clinical applications section will find use as the student progresses from the preclinical to the clinical curriculum. Because of its brevity, it is not likely to be a very useful referencefor clinici ans or scientists.
Features: The book is attractively crafted and lavishly illustrated with black-and-white photographs and two-color illustrations. The illustrations are appropriate and helpful. A center section contains a number of color photographs, most of which illustrate the use of fluorescence in situ hybridization (FISH) for identification of chromosomes and chromosomal regions. These illustrations are impressive, but the emphasis on FISH is out of place. The references are largely appropriate, although some are dated. There i s a short glossary and a 100-question self-assessment section with answers. Included in the appendixes are odds and probability, Bayes' theorem, and coefficients of relationship and inbreeding.
Assessment: The book succeeds in presenting many basic aspects of medical genetics clearly and concisely. Its greatest shortcoming is its brevity. There are several important areas that are either treated too superficially or neglected altogether: a mere half page is devoted to uniparental disomy (and that is at the end of the chapter on chromosome aberrations rather than non-Mendelian inheritance); imprinting is not discussed; and mitochondrial genetics is treated very superficially. The book will be most useful as a medical genetics text. Although the discussions of topics such as genetics of common diseases and congenital malformations are useful, most of the descriptions of genetic disorders are too short to be useful to a clinician. Because they are presented separately from the basic principles section, they do not successfully illustrate concepts discussed with the basic principles.