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Zusatztext This is an amazing compilation of genetic knowledge. It provides a fantastic tool for clinical geneticists who require a fast review of specific genetic subjects while performing clinical consultations. ... Condensation of the amount of information included in this wonderful book could not be done any better. ... This is a most-have tool for all clinical geneticists who require quick and specific reviews in clinical practice. ... Dr Firth and Hurst have achieved atremendous goal. They have been able to summarize a tremendous amount of information in clinical genetics and convert it to an excellent tool for the practice of the specialty. It could not be done any better. The magnificent work done suggests that as the field of clinical genetics expands! furthereditions will be needed. This is a must have book! and a second edition would be expected. Klappentext 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 commongenetic 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 andpre-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 andhas 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 childdevelopment. An essential all-in-one guide to clinical genetics Zusammenfassung The first in a brand new series of easy-to-use guides! this book is set to become the bible for clinical consultation in genetics. It covers the process of diagnosis! investigation! management! and counselling for patients. 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 detailsfor support groups. The book is well illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology.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 all covered. In addition there are chapters on familial cancer and pregnancy-related topics such as foetal anomalies! teratogens! prenatal and pre-implantation diagnosis. The book also provides information on the less common situations! where managementis particularly complex! or important genetic concepts are illustrated. Inhaltsverzeichnis 7336670 ...
