Velo-cardio-facial Syndrome: A Model for Understanding Microdeletion Disorders

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Velo-cardio-facial Syndrome: A Model for Understanding Microdeletion Disorders
Author: Kieran C. Murphy, Peter J. Scambler
URL:

http://www.amazon.com/exec/obidos/redirect?tag=songstech-20&path=ASIN%2F0521821851

Product Details
pages: 256 pages
Publisher: Cambridge University Press
ISBN: 0521821851
Format: PDF with Chapter Bookmarks
Size: 2.31 MB zipped to 1.67 MB
Supplier:
Summary:
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 is the first book 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 with interests in other genetic disorders.

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