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Velo-Cardio-Facial Syndrome

A Model for Understanding Microdeletion Disorders

Velo-Cardio-Facial Syndrome by Kieran C. Murphy
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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.
Cambridge University Press; June 2005
257 pages; ISBN 9780511123788
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Title: Velo-Cardio-Facial Syndrome
Author: Kieran C. Murphy; Peter J. Scambler
 
ISBNs
0511123787
9780511123788
9780521821858