Medical Genetics in the Clinical Practice of ORL
Editor(s): Alford, R.L. (Houston, TX)Sutton, V.R. (Houston, TX)
Basic Medical Genetics for the OtolaryngologistAlford R.L.a · Darilek S.A.baBobby R. Alford Department of Otolaryngology – Head and Neck Surgery and bDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex., USA
|
|
Log in to MyKarger to check if you already have access to this content.
KAB
Buy a Karger Article Bundle (KAB) and profit from a discount!
If you would like to redeem your KAB credit, please log in.
Save over 20% compared to the individual article price.
Article / Publication Details
Published online: February 24, 2011
Cover Date: 2011
Number of Print Pages: 8
Number of Figures: 2
Number of Tables: 0
ISBN: 978-3-8055-9668-8 (Print)
eISBN: 978-3-8055-9669-5 (Online)
Abstract
Medical genetics is becoming an increasingly important part of the practice of medicine across every medical specialty. For otolaryngologists, understanding the genetic basis of hearing loss, tumors of the head and neck and other otolaryngologic conditions is crucial to effectively incorporating medical genetics information, tools and services into patient care. A clinician who understands the genetic basis of disease, mechanisms of genetic mutation and patterns of inheritance will be positioned to diagnose genetic conditions, interpret genetic test results, assess genetic risks for relatives of patients and refer patients and families for medical genetics and other specialty care. The family medical history is an indispensible tool that, when used properly, can aid in the recognition of genetic susceptibilities within a family and offer opportunities for early intervention. However, obtaining a family medical history is not as simple as it might seem. Knowing what questions to ask, how to properly draw a pedigree and how to recognize patterns of inheritance are critical to obtaining an informative family medical history and using the information in a clinical setting. This article provides a brief introduction to basic medical genetics that includes descriptions of the human genome, the genetic basis of human disease and patterns of inheritance, and a primer for collecting family medical history information.
© 2011 S. Karger AG, Basel
Related Articles:
References
-
Nussbaum RL McInnes RR Willard HF: Thompson & Thompson Genetics in Medicine.
7 Philadelphia, Saunders/ Elsevier, 2007; -
Bennett RL French KS Resta RG Doyle DL: Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Couns 2008;17:424-433
-
Baker DL Schuette JL Uhlmann WR: A Guide to Genetic Counseling. New York, Wiley-Liss, 1998;
-
Harper PS: Practical Genetic Counselling.
6 London, Arnold, 2004;
Article / Publication Details
Published online: February 24, 2011
Cover Date: 2011
Number of Print Pages: 8
Number of Figures: 2
Number of Tables: 0
ISBN: 978-3-8055-9668-8 (Print)
eISBN: 978-3-8055-9669-5 (Online)
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
Get Permission
PubMed ID
