Signs and Symptoms of Genetic Conditions

Signs and Symptoms of Genetic Conditions PDF Author: Louanne Hudgins
Publisher: Oxford University Press
ISBN: 0199388695
Category : Medical
Languages : en
Pages : 561

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Book Description
Connecting an abnormal physical exam to a possible genetic condition is a daunting and inexact task for any physician, be they a primary care provider, non-geneticist specialist, or fellowship-trained geneticist. Comprising 31 clinical protocols from the world's foremost clinical geneticists, Signs and Symptoms of Genetic Conditions provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms. Each chapter examines a specific clinical finding and leads the user through a step-by-step approach to a differential diagnosis. To maximize clinical utility, this handbook features: · Prominent flow chart diagrams that graphically depict the diagnostic approach · Concise recommendations for laboratory and/or imaging studies · Health supervision and management strategies for the most common conditions associated with each presenting sign or symptom Whether for the student, resident, or seasoned clinician, Signs and Symptoms of Genetic Conditions will serve as a frontline resource for navigating differential diagnosis.

Signs and Symptoms of Genetic Conditions

Signs and Symptoms of Genetic Conditions PDF Author: Louanne Hudgins
Publisher: Oxford University Press
ISBN: 0199388695
Category : Medical
Languages : en
Pages : 561

Get Book Here

Book Description
Connecting an abnormal physical exam to a possible genetic condition is a daunting and inexact task for any physician, be they a primary care provider, non-geneticist specialist, or fellowship-trained geneticist. Comprising 31 clinical protocols from the world's foremost clinical geneticists, Signs and Symptoms of Genetic Conditions provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms. Each chapter examines a specific clinical finding and leads the user through a step-by-step approach to a differential diagnosis. To maximize clinical utility, this handbook features: · Prominent flow chart diagrams that graphically depict the diagnostic approach · Concise recommendations for laboratory and/or imaging studies · Health supervision and management strategies for the most common conditions associated with each presenting sign or symptom Whether for the student, resident, or seasoned clinician, Signs and Symptoms of Genetic Conditions will serve as a frontline resource for navigating differential diagnosis.

Signs and Symptoms of Genetic Conditions

Signs and Symptoms of Genetic Conditions PDF Author: Louanne Hudgins
Publisher: Oxford University Press, USA
ISBN: 019993097X
Category : Medical
Languages : en
Pages : 561

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Book Description
Comprising 31 clinical protocols from the world's foremost clinical geneticists, this title provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms.

Assessing Genetic Risks

Assessing Genetic Risks PDF Author: Institute of Medicine
Publisher: National Academies Press
ISBN: 0309047986
Category : Medical
Languages : en
Pages : 353

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Book Description
Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.

Signs and Symptoms of Genetic Disease

Signs and Symptoms of Genetic Disease PDF Author: H. Eugene Hoyme
Publisher: Saunders
ISBN: 9781416029656
Category : Medical
Languages : en
Pages :

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Book Description


A Guide to Genetic Counseling

A Guide to Genetic Counseling PDF Author: Wendy R. Uhlmann
Publisher: John Wiley & Sons
ISBN: 1118210530
Category : Medical
Languages : en
Pages : 644

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Book Description
The first book devoted exclusively to the principles and practice of genetic counseling—now in a new edition First published in 1998, A Guide to Genetic Counseling quickly became a bestselling and widely recognized text, used nationally and internationally in genetic counseling training programs. Now in its eagerly anticipated Second Edition, it provides a thoroughly revised and comprehensive overview of genetic counseling, focusing on the components, theoretical framework, and unique approach to patient care that are the basis of this profession. The book defines the core competencies and covers the genetic counseling process from case initiation to completion—in addition to addressing global professional issues—with an emphasis on describing fundamental principles and practices. Chapters are written by leaders in the field of genetic counseling and are organized to facilitate academic instruction and skill attainment. They provide the most up-to-date coverage of: The history and practice of genetic counseling Family history Interviewing Case preparation and management Psychosocial counseling Patient education Risk communication and decision-making Medical genetics evaluation Understanding genetic testing Medical documentation Multicultural counseling Ethical and legal issues Student supervision Genetic counseling research Professional development Genetics education and outreach Evolving roles and expanding opportunities Case examples A Guide to Genetic Counseling, Second Edition belongs on the syllabi of all medical and human genetics and genetic counseling training programs. It is an indispensable reference for both students and healthcare professionals working with patients who have or are at risk for genetic conditions.

Principles of Medical Genetics

Principles of Medical Genetics PDF Author: Thomas D. Gelehrter
Publisher: Lippincott Williams & Wilkins
ISBN: 9780683034455
Category : Medical
Languages : en
Pages : 444

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Book Description


Signs and Symptoms of Genetic Conditions

Signs and Symptoms of Genetic Conditions PDF Author: H. Eugene Hoyme
Publisher:
ISBN: 9780199353071
Category : Diagnosis, Differential
Languages : en
Pages :

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Book Description
Comprising 31 clinical protocols from the world's foremost clinical geneticists, this title provides a practical manual for the diagnosis and management of common human genetic conditions based on their presenting signs and/or symptoms.

Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling

Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling PDF Author: R.J. McKinlay Gardner
Publisher: Oxford University Press
ISBN: 019932901X
Category : Medical
Languages : en
Pages : 729

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Book Description
Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.

Oxford Handbook of Genetics

Oxford Handbook of Genetics PDF Author: Guy Bradley-Smith
Publisher: Oxford University Press, USA
ISBN: 0199545367
Category : Medical
Languages : en
Pages : 486

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Book Description
This handbook provides accessible information on specific genetic diseases, and possible genetic components of major diseases, for the primary health care team and junior doctor in training. It assists with why, when, and where to refer patients, and affected families, to get the best advice about genetic disease.

Genetic Counseling Research

Genetic Counseling Research PDF Author: Ian M. MacFarlane
Publisher: Oxford University Press, USA
ISBN: 0199359091
Category : Medical
Languages : en
Pages : 305

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Book Description
This text is devoted to research methodology in genetic counselling. The book offers step-by-step guidance for conducting research, from the development of a question to the publication of findings.