Chromosome Abnormalities and Genetic Counseling: Edition 3

Oxford University Press
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Chromosomal abnormalities can cause disability in children, and reproductive difficulty in parents. Many parents and couples seek genetic counseling in order to learn why they, or a relative, may have had a child with a particular collection of medical problems and/or intellectual disability. There may have been a history of multiple miscarriage, or infertility. They may want to know the outlook for a pregnancy, and what the risks might be. These and other questions concerning chromosome abnormalities are addressed in this standard text, which will be of interest to genetic counselors, medical geneticists, pediatricians and obstetricians, infertility specialists, and laboratory cytogeneticists. This third edition has been thorougly updated, and is richly illustrated and fully referenced. New chapters have been written on preimplantation diagnosis and on reproductive risks due to environmental agents. The practical applications of recent advances in molecular cytogentics are noted. The book will give counselors the information that will enable them to help concerned parents accommodate to their particular "chromosomal situation", and to determine what may be, for them, the best course of action.
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Additional Information

Publisher
Oxford University Press
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Published on
Aug 28, 2003
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Pages
604
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ISBN
9780199725243
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Language
English
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Genres
Medical / Genetics
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This content is DRM protected.
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Eligible for Family Library

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This widely acclaimed reference work gives a comprehensive survey of all significant human malformations and related anomalies from the perspective of the clinician. The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. When known, the molecular or other pathogenetic basis for the malformation is given. Most anomalies are illustrated by photographs or drawings. Specific malformations are linked to syndromes through the extensive use of differential diagnosis tables. Over a decade has passed since the first edition of this book was published, and the revised edition fully incorporates the advances made in the field during the intervening years.. It reflects new understanding of human developmental biology that has emerged from molecular, cytogenetic, and biochemical studies; new observations by clinicians as well as enhanced diagnostic and prevention capacities; and more accurate and comprehensive epidemiology. By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. Stevenson and Hall and their contributors have managed to update the book while reducing its size to that of a single volume. All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information.
A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine

Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as:

The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes

Each chapter of Medical Genetics is logically organized into three sections:

Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care

Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.

Highly valued across the world by genetic counsellors, medical geneticists and other healthcare professionals, Harper's Practical Genetic Counselling has established itself over previous editions as the essential guide to counselling those at risk from inherited disorders.

Fully revised by its new author Angus Clarke, and with additional input from colleagues, this eighth edition provides indispensable and up-to-date guidance, helping readers to navigate the profusion of new information in this area and the associated psychosocial and ethical considerations and concerns. Maintaining the trusted framework of earlier editions, the update presents the latest information on the use and interpretation of genetic test results, including new genomebased investigations and their application in the genetic counselling process. This book will help both the student and the practitioner, as genetic and genomic investigations become progressively more relevant to all healthcare professionals with the mainstreaming of genetics across the full range of medical practice.

The eighth edition of this best-selling text will continue to be an essential source of reference for trainee and practitioner genetic counsellors and medical geneticists, for clinicians and nurses working in mainstream specialties who increasingly are dealing with the genetic aspects of disease, and for practitioners working in settings where referral to a genetics specialist is not readily available. It also provides invaluable background for other healthcare professionals, counsellors, social scientists, ethicists and genetics laboratory staff.

Psychosocial issues are integral to all genetic counseling interactions. They include counselees' beliefs about the cause of birth defects and genetic disorders, the cognitive procession of medical information and risk figures, emotions such as anxiety and guilt, and the complex process of decision making. Drawing on direct clinical experience and the growing body of relevant literature, Psychosocial Genetic Counseling provides a comprehensive, integrated approach to understanding these issues and their applications to genetic counseling. The book combines theoretical and practical approaches, including many clinical vignettes and examples of dialogue. It is written in an engaging style that conveys the emotional immediacy of genetic counseling. The emotional and social effects of genetic disorders are discussed with reference to the individual and to couple, family, and social interactions. Counseling techniques and the agenda of the genetic counseling session are then addressed in detail. Specialized aspects of prenatal diagnosis counseling, cancer risk counseling, and genetic counseling with children and adolescents are integrated with these general principles. Nondirective counseling and the psychology of risk interpretation and decision making are discussed from theoretical and historical perspectives, leading to recommendations for their application to clinical practice. The influences of ethnocultural history, beliefs and practices, for counselee and counselor, are then discussed as they enter into all aspects of genetic counseling.
A popular and easy-to-use guide, this book is a must-have tool for clinical consultations in genetics and genomic medicine. Ideal for quick reference during practice, it covers the process of diagnosis, investigation, management, and counselling for patients. With a strong evidence base and international guidelines, it puts reliable and trustworthy guidance at your fingertips. Designed for use as a first-line guide, the A to Z format ensures it's accessible, and the simple layout makes it easy to assimilate information. Highly illustrated, the book also contains up-to-date glossaries of terms used in genetics and dysmorphology providing quick reference for key concepts. The second edition is an eagerly anticipated update of the gold standard in the specialty. It covers new developments in the field, particularly the advent of genome-wide sequencing and major updates in cancer. Fifteen new topics have been added, including Sudden cardiac death, Neonatal screening, and Ciliopathies. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both outpatient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered, and where available diagnostic criteria are included. In addition there are chapters on familial cancer and pregnancy-related topics such as fetal anomalies, teratogens, prenatal and pre-implantation diagnosis and non-invasive prenatal testing. The book also provides information on the less common situations where management is particularly complex. Both practical and pertinent, Oxford Desk Reference: Clinical Genetics and Genomics is the companion you need by your side during clinical consultations.
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.

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