Introduction to Risk Calculation in Genetic Counselling - Couverture souple

Young, Ian D.

 
9780199632053: Introduction to Risk Calculation in Genetic Counselling

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, "user-friendly" style with liberal use of worked examples and will be of benefit to everyone involved in the provision and delivery of genetic counselling services.

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Revue de presse

'The substance of the book is excellent ... much of the book is of bench mark quality and this is certainly the status of the glossary which is to be recommended thoroughly ... this is a text which will have a prominent position on the bookshelf of all clinicians who are faced by problems with a recognised genetic basis.' C.F. John Grindle, Neuromuscular Disorders, Vol. 1, No. 4, 1991

'I would recommend this book to any clinicians involved in aspects of genetic counselling' D.J.H. Brock, Human Genetics Unit, University of Edinburgh, Genetical Research, Volume 58, 1991

'The book will be of benefit to everyone involved in the provision and delivery of genetic counselling services.' P. Eberle, Theoretical and Applied Genetics

'more than fulfils its aim to be a "user friendly introduction to risk calculation ... It is clear in style, with worked examples.' BMJ, Volume 307, 1993

Présentation de l'éditeur

Fully updated since the first edition (1991) this book provides a simple introduction to risk calculation for genetics counselling, describing in detail how risks can easily 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.

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