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.

lgrsnf/A:\sciencedirect_books\9780433315919 (34).pdf

nexusstc/Genetic Counselling/e5f1e5f9f2d26dcd6244103dec33a29c.pdf

Alan Carruth Stevenson, Brigid Catherine Clare Davison, Michael W. Oakes

Stevenson, Alan C, Davison, B C Clare

Rigby Educational Publishers

Pearson Education Limited

Butterworth-Heinemann

Lippincott

United Kingdom and Ireland, United Kingdom

Elsevier Ltd., London, 1976

2nd ed, Philadelphia, 1976

2d ed, London, 1976

2 r.e., 1976-10

lg1110778

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Content:
Front Matter , Page iii
Copyright , Page iv
Preface to First Edition , Page vii
Preface to Second Edition , Page ix
Chapter 1 - INTRODUCTION , Pages 1-5
Chapter 2 - ELEMENTARY GENETICS , Pages 6-46
Chapter 3 - PRINCIPLES OF DERIVATION OF RISK ESTIMATES , Pages 47-62
Chapter 4 - RISK ESTIMATES IN RESPECT OF AUTOSOMAL DOMINANT GENE TRAITS , Pages 63-72
Chapter 5 - COUNSELLING X-LINKED RECESSIVE GENE TRAITS , Pages 73-102
Chapter 6 - RISK ESTIMATES—AUTOSOMAL RECESSIVE GENE TRAITS , Pages 103-117
Chapter 7 - CONSANGUINITY , Pages 118-121
Chapter 8 - DISORDERS DUE TO CHROMOSOMAL ANOMALIES , Pages 122-140
Chapter 9 - DEFECTS AND DISORDERS OF THE CENTRAL NERVOUS SYSTEM , Pages 141-166
Chapter 10 - DEFECTS AND DISORDERS OF THE EYES , Pages 167-180
Chapter 11 - MENTAL DEFECT AND MENTAL ILLNESS , Pages 181-189
Chapter 12 - DEAFNESS , Pages 190-201
Chapter 13 - DISORDERS OF MUSCLES , Pages 202-206
Chapter 14 - DISORDERS PREDOMINANTLY AFFECTING THE SKELETON , Pages 207-221
Chapter 15 - DEFECTS AND DISORDERS OF THE ALIMENTARY TRACT , Pages 222-229
Chapter 16 - DEFECTS AND DISORDERS OF THE UROGENITAL SYSTEM , Pages 230-241
Chapter 17 - DEFECTS AND DISORDERS OF THE CARDIOVASCULAR SYSTEM , Pages 242-250
Chapter 18 - HEREDITARY DISORDERS OF THE SKIN AND INTEGUMENT , Pages 251-257
Chapter 19 - METABOLIC DISORDERS , Pages 258-272
Chapter 20 - HEREDITARY DISORDERS OF THE BLOOD , Pages 273-278
Chapter 21 - NEOPLASMS , Pages 279-285
Chapter 22 - RISKS TO OUTCOME OF PREGNANCY AND EFFECTS OF MUTAGENIC AND TERATOGENIC AGENTS , Pages 286-298
Chapter 23 - SOME SYNDROMES AND SOME MISCELLANEOUS CONDITIONS , Pages 299-305
Chapter 24 - OUR PATIENTS AND THEIR PROBLEMS , Pages 306-308
Appendix 1 - AUTOSOMAL DOMINANT TRAITS NOT INVARIABLY PENETRANT—MORE COMPLEX COUNSELLING SITUATIONS , Pages 309-316
Appendix 2 - ESTIMATION OF PENETRANCE , Pages 317-318
Appendix 3 - GENETIC RISKS X-LINKED TRAITS—FURTHER PROBLEMS , Pages 319-329
Appendix 4 - CALCULATION OF COEFFICIENTS OF INBREEDING , Pages 330-339
Appendix 5 - GLOSSARY , Pages 340-347
Index , Pages 349-357

2013-12-20