Oxford Desk Reference Clinical Genetics

Oxford Desk Reference Clinical Genetics





This important new book provides a useful, easy-to-use guide to the clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out-patient and ward-based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are covered. In addition there are chapters on familial cancer and pregnancy-related topics such as fetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated. Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well-illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. This accessible book is designed for use by consultants and trainees in clinical genetics, genetic counsellors and paediatricians, particularly those working in paediatric neurology, neonatology or child development.









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