Practical Genetic Counselling: 7th Edition (Paperback) book cover

Practical Genetic Counselling

7th Edition

By Peter S. Harper

CRC Press

416 pages | 100 B/W Illus.

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Paperback: 9780340990698
pub: 2010-08-27
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'Easy to use, and useful when kept close at hand in the room where you work. The book is a pleasure to read: the style elegant and authoritative.' Lancet

'…this book is a wonderful reference to enable primary physicians to be informed about their patients.' Annals of Internal Medicine

Universally used across the world by genetic counsellors, medical geneticists and clinicians alike, Practical Genetic Counselling has established itself as the essential guide to counselling those at risk from inherited disorders.

Increasingly, common disorders are known to have a genetic component and this book provides invaluable and up to date guidance through the profusion of new information in this area and the associated psychosocial and ethical considerations and concerns.

Within its established, tried and trusted framework, the book contains updated information on: developments in common disease genetics, new molecular techniques and genetic counselling, non invasive prenatal diagnosis, the molecular basis of congenital malformations, the history of genetic counselling and the social and ethical aspects of advances in genetics.

Key features:

- Fully updated to provide the very latest information when in a busy consulting room or clinic

- Clear and authoritative advice applicable to everyday clinical practice

- Reflects the rapid development of knowledge in this area, including the implications of the human genome project and related technology

The seventh edition of this popular, best selling text will continue to be an essential source of reference for trainee and practitioner genetic counsellors, medical geneticists and clinicians. It will provide also valuable background for specialist nurses, counsellors, social scientists, ethicists as well as genetics laboratory staff.

Table of Contents

General Aspects of Genetic Counselling

Genetic Counselling: an Introduction

Genetic Counselling in Mendelian Disorders

Common Disorders and Genetic Counselling

Chromosome Abnormalities

Molecular Genetics and Genetic Counselling

Dysmorphology and Genetic Syndromes

Carrier Testing and Genetic Prediction

Prenatal Diagnosis and Reproductive Aspects of Medical Genetics

Special Issues in Genetic Counselling

The Genetic Counselling Clinic

Genetic Counselling: Specific Organ Systems

Neuromuscular Disorders

Central Nervous System Disorders

Disorders of Mental Function

Disorders of Bone and Connective Tissue

Oral and Craniofacial Disorders

The Skin

The Eye


Cardiovascular and Respiratory Disorders

The Gastrointestinal Tract

Renal and Urinary Tract Disease

Endocrine and Reproductive Disorders

Inborn Errors of Metabolism

Disorders of Blood and Immune Function

Genetic Risks in Cancer

Environmental Hazards

Genetic Counselling: the Wider Picture

Population Aspects of Genetic Counselling and Genetic Screening

Genetics and Society

Appendix: Useful Information in Connection with Genetic Counselling

About the Author

Peter S. Harper is University Research Professor (Emeritus) in Human Genetics,
Institute of Medical Genetics, Cardiff University, Cardiff, UK

Subject Categories

BISAC Subject Codes/Headings:
MEDICAL / General
MEDICAL / Genetics