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Doody's Review ServiceReviewer: Theodore W Bergfelt, BA, MLS (Duquesne University)
Description: This two-volume encyclopedia presents 500 signed articles, from two to eight pages in length, on genetic disorders and related concepts. This is an update of the 2005 edition.
Purpose: The purpose is to present information in language a lay person can understand without dumbing it down. It aims to fill the gap between home medical encyclopedias and the professional literature and it succeeds admirably. Medical terms are clearly defined and the encyclopedia is very readable.
Audience: The authors are genetic counselors, physicians, and other healthcare professionals, and medical writers. All articles have been checked for accuracy and timeliness by a board of experts in medicine and genetics.
Features: The encyclopedia includes articles on concepts important in genetics and articles on both well-known and rare genetic disorders, which follow a standard format. These articles start with a definition and description, then move on to a genetic profile, demographic information, signs and symptoms of the condition, diagnosis, prognosis, and available treatment options. Lists of resources for further information are provided, including citations to books, journal articles, and authoritative websites, as well as URLs for organizations dealing with each disorder. Key terms are defined and questions for patients to ask their doctors are listed. The font size is large enough for easy reading and the layout is clean and uncluttered. Article titles are in blue and headings throughout the articles are in green. The key terms and questions to ask your doctor are offset in colored boxes. Unique features include pedigree charts, with a guide to the symbols, and a chromosome map showing the approximate location of many of the genes related to disorders covered in the book. An alphabetical list of support organizations, with phone numbers and URLs is provided. An extensive glossary and index round out the work.
Assessment: The alphabetical arrangement and extensive index make using this encyclopedia intuitive and its clean design and larger font size make reading easy. This third edition updates an important work that both consumers and professionals will continue to find useful.