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Arch Dis Child 91:718
  • BOOK REVIEW

Oxford desk reference: clinical genetics

Edited by Helen V Firth, Jane A Hurst, Judith G Hall (consulting editor). Oxford University Press, 2005, £49.95 (US$90 (approx.); €75 (approx.)), hardback, pp 708. ISBN 0192628968

Edited by Harold Chen. New Jersey: Humana Press, 2005, £144.50 (US$270 (approx.); €210 (approx.)), hardback, pp 1076. ISBN 1588296814

Atlas of genetic diagnosis and counseling


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I was pleasantly surprised and at the same time excited, when I was asked to review these two genetics books of great quality. Both books are unique, offering a wealth of information not only to the geneticist and paediatrician, but also the sub-specialists, specifically paediatric neurologists, oncologists, neonatologists, and community paediatricians. Oxford desk reference: clinical genetics is a very practical, handy book and Atlas of genetic diagnosis and counseling is a classical medical textbook. Both are an impressive source of knowledge and would be a great asset to anyone relating to this challenging and complex speciality.

Oxford desk reference: clinical genetics

This book fits the process of approach to a genetic condition, diagnosis, investigation, management, and counselling aspects onto a double page spread, ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Most sections conclude with lists of name and addresses of support groups, website addresses, and contact details of an expert adviser. The book would be an invaluable tool to geneticists for outpatient and ward referrals. It is broadly divided into six chapters. The first chapter covers the basic concepts of genetics and ethics. The second and third chapters devise a practical clinical approach to many common genetic problems and conditions. The next three chapters are on cancer genetics, chromosomes, and prenatal genetics respectively. The appendix includes centile charts, skeletal dysplasia charts, patterns of cancer, dysmorphology examination check list, and a list of most essential things which we, at some point or other in our professional lives, have wished that someone would put together.

Atlas of genetic diagnosis and counseling

This book is a classical reference text that lists 203 common genetic disorders and syndromes in alphabetical order. Even though individually rare, these conditions as a group form a substantial number in one’s clinical practice. The author comprehensively goes through the genetics, clinical features, investigations, counselling aspects, and references of each condition. The disorders are presented in a clear, concise, and consistent manner with easily digestible information. Each condition is supplemented by numerous colour photographs of the disorder, appropriate antenatal ultrasound scans, and cytogenetic, molecular genetic, and radiological images. This book would help the doctor recognise and understand these rare conditions much better because the images and photographs create a long lasting impression. It would also be extremely valuable to someone preparing for their membership examinations as a quick reference guide to the common genetic conditions.

To conclude, both books complement each other very well. One book aids in making the diagnosis or approaching a common medical problem, the other provides more information on the condition once the diagnosis is made. Both books should be on the shelves of all genetic, paediatric, medical, obstetric, and oncology departmental libraries. They are essential reading for all medical trainees and relevant for all professionals in the field of genetics. The authors and everyone behind both ventures should be congratulated in bringing out these two books of unparalleled excellence.