Principles and Practice of Medical Genetics

This work provides coverage of the field of medical genetics. This third edition includes an updated introductory section on basic principles of the subject.

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The only comprehensive book in the field, this text is a veritable encyclopedia of medical genetics. The third edition has been updated in so many ways it is practically a new book, but it carries on its reputation from previous editions as the dominant work on the subject worldwide. Highly authoritative and clinically focused, the text covers the whole field of medical genetics, including an introductory section on basic principles of the subject - which has been completely updated.The book's contributors are among the foremost experts on the conditions which they describe. It is pitched at a level useful to clinical geneticists, but also accessible to other specialists (paediatricians, haematologists, neurologists, ophthalmologists, oncologists, general physicians) needing guidance on genetic matters. Where previously the book went only as far as diagnosis, it now includes focus on management of conditions and contains 30 new clinical chapters.
Features: * Revised section on basic principles: up-to-date information on molecular and cytogenetic assays including recombinant DNA, PCR amplification, blot analysis, and in situ hybridization protocols * Full-color examples of FISH probes and chromosomal painting * More focus on the clinical aspects of genetics including photographs of the full spectrum of clinical phenotypes * Latest information on teratology * An up-to-date human gene map contributed by Victor McKusick * Stronger emphasis on the management of conditions including genetic screening and gene therapy * Reviews of the second edition include these excerpts: A landmark book...well written, attractively designed and properly organized...The hundreds of illustrations, and references to the primary literature make this book a must..." The New England Journal of Medicine "80% of its pages are devoted to a comprehensive clinical coverage of genetic disorders...it seems to be a mine of useful information, well tabulated and extensively referenced." Trends in Genetics "No medical geneticist will practice without this book. Every library that deals with human biology or medicine should order this text.
Highly recommended!" Annals of Human Biology "There is no competitor as a basic text for the trainee in clinical genetics, or for pediatric, obstetric and general medical libraries." British Journal of Hospital Medicine"