Velo-Cardio-Facial Syndrome A Model for Understanding Microdeletion Disorders

Kieran C. Murphy, Peter J. Scambler

ISBN 10: 0521821851 / ISBN 13: 9780521821858

Published by Cambridge University Press, 2005

About this Item

Seller Inventory # E-9780521821858-2-2

Bibliographic Details

• Title: Velo-Cardio-Facial Syndrome A Model for Understanding Microdeletion Disorders
• Publisher: Cambridge University Press
• Publication Date: 2005
• Language: English
• ISBN 10: 0521821851
• ISBN 13: 9780521821858
• Binding: Hardcover
• Condition: Very good

About this title

Synopsis

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.

Book Description

Velo-Cardio-Facial Syndrome (VCFS) is a genetic disorder caused by deletion of part of chromosome 22. The focus is clinical issues with chapters devoted to psychiatric disorders, neuroimaging, speech and language, cardiac, ENT, gastrointestinal, ophthalmic and urological manifestations. This 2005 book has been authored by leading international VCFS clinicians and researchers.