Introduction to Risk Calculation in Genetic Counselling - Couverture rigide

Young, Ian D.

Couverture rigide

ISBN 10 : 0199632634 ISBN 13 : 9780199632633

Editeur : Oxford University Press, 1991

Synopsis

Genetic counselling is widely accepted as an integral part of the management of every patient with an inherited disorder. This book describes in detail how risks can be estimated or calculated for most counselling situations, using nothing more complex than a knowledge of the simple laws of probability and a pocket calculator. All patterns of inheritance are considered. Particular attention is paid to the segregation of balanced chromosome rearrangements and risk calculation in single gene inheritance taking into account factors such as reduced penetrance, late age of onset, consanguinity, and the extended family. The use of linked markers - an area of rapidly increasing importance in carrier detection and prenatal diagnosis - is also covered at length. The text has been written in a straightforward style with liberal use of worked examples.

A propos du livre

Présentation de l'éditeur

The process of genetic counselling involves many key components, such as taking a family genetic history, making a diagnosis, and providing communication and support to the family. Among these core processes is the mathematical calculation of the actual risk of a possible genetic disorder. For most physicians and counsellors, the mathematics and statistics involved can be a major challenge which is not always helped by complex computer programs or lengthy papers full of elaborate formulae. In this clear, reader-friendly guide, Ian Young addresses this problem and demonstrates how risk can be estimated for inherited disorders using a basic knowledge of the laws of probability and their application to clinical problems. The text employs a wealth of clearly explained examples and "key points" in order to guide the reader to an accurate assessment of the risk of genetic disease. It primarily will appeal to genetic counsellors, geneticists, and all those involved in providing medical genetic services. In this new edition, Dr. Young has pruned redundancies and extensively updated the concepts in each of the 10 chapters, and he has included more working examples, a popular feature of the book.

Revue de presse

I would recommend this book to any clinicians involved in aspects of genetic counselling (Genetical Research)

Introduction to Risk Calculation in Genetic Counselling more than fulfils its aim to be a "user friendly introduction to risk calculation... for those involved in deliver of genetic counselling services." It is clear in style, with worked examples, and all within 150 pages (BMJ, vol 307)

...this new text is to be welcomed as it is readily accessible to the majority of clinicians and is, in essence, a book that should be on the "working bookshelf"! (Neuromuscular Disorders)

Détails de l'édition

• Éditeur: Oxford University Press
• Date d'édition: 1991
• Langue: anglais
• ISBN 10: 0199632634
• ISBN 13: 9780199632633
• Reliure: Relié
• Nombre de pages: 168
• Coordonnées du fabricant: non disponible
• Personne responsable: Ufficio Anagrafiche Messaggerie; ufficio.anagrafiche@meli.it; ; Via Verdi, 8.; Assago Milano; 20090; Italie