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Velo-cardio-facial syndrome : a model for understanding microdeletion disorders / edited by Kieran C. Murphy, Peter J. Scambler

Murphy, Kieran C. [HerausgeberIn] ; Scambler, Peter J. [HerausgeberIn]

Englisch

Cambridge : Cambridge University Press, 2005

1 Online-Ressource (xi, 243 pages) : digital, PDF file(s)

Title from publisher's bibliographic system (viewed on 05 Oct 2015)

Print version: ISBN 9780521821858

978-0-511-54410-1 : ebook

Weitere Ausgaben: 978-0-521-82185-8 (Druckausgabe) : hardback, 978-0-521-18432-8 (andere physische Form) : paperback

DOI: 10.1017/CBO9780511544101

*Genetic disorders

*Genetic disorders

Klassifikation der Library of Congress: RB155.5

Dewey Dezimal-Klassifikation: 616.042;

Velo-Cardio-Facial Syndrome (VCFS) is a genetic disorder caused by the deletion of part of chromosome 22. It occurs in approximately one in 4000 births and there are now more than 100 physical phenotypic features reported. VCFS affects every major system in the body and this 2005 book was the first to describe its full clinical impact. It has been authored by leading international VCFS clinicians/researchers. The focus is on clinical issues with chapters devoted to psychiatric disorders (with the sufferer showing very high levels of schizophrenia), neuroimaging, speech and language disorders, as well as cardiac, ENT, gastrointestinal, ophthalmic and urological manifestations. Molecular genetics, immunodeficiency and genetic counselling are also covered, and practical approaches to diagnosis and treatment described. As VCFS is seen as a paradigm for other microdeletion disorders, this book will not just appeal to clinicians seeing VCFS patients, but also to those interested in other genetic disorders

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