Genetic Counselling e-bog

Genetic Counselling, Second Edition covers genetic counseling, which is mainly concerned with advising people about the risk that a member of a family will suffer from a congenital or hereditary disorder. This edition updates topics such as the advent of differential staining of chromosomes and extensive use of amniocentesis and other techniques in pre-natal diagnosis. When considering defects and disorders, an attempt is made to indicate where risk estimates should present no problems to the practicing physician, and where, by reason of genetical, statistical, or diagnostic complexities, it may be advisable to seek some specialist opinion. This book concentrates on such estimations of risk, emphasizing that pre-requisites for adequate estimations of risks are as accurate a diagnosis as possible. The mechanisms of inheritance of the trait or availability of data on which to base empirical estimates are also deliberated. This publication is intended as a guide to clinicians and as an aide-memoire to medical geneticists.