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Velo-Cardio-Facial Syndrome: A Model for Understanding Microdeletion Disorders (Paperback)
  • Velo-Cardio-Facial Syndrome: A Model for Understanding Microdeletion Disorders (Paperback)

Velo-Cardio-Facial Syndrome: A Model for Understanding Microdeletion Disorders (Paperback)

(editor), (editor)
Paperback 258 Pages / Published: 23/12/2010
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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.

Publisher: Cambridge University Press
ISBN: 9780521184328
Number of pages: 258
Weight: 360 g
Dimensions: 244 x 170 x 14 mm

Review of the hardback: 'This is a wonderful, highly specialized tool for clinicians in general. It is a great source for multiple specialities (pediatric cardiology, ENT, medical genetics, etc.). The work presented here is unique, with no other similar books in the market. The integration of the different aspects of VCFS makes this a great instrument for multidisciplinary teams.' Doody's Book Review Service
Review of the hardback: '... this book is a valuable trove of information for professionals and parents alike, and one that can be referred to for up-to-date information on all aspects of the syndrome. It is extremely detailed, yet clear, and some of the more difficult concepts are explained in a very comprehensible way.' Psychological Medicine
Review of the hardback: 'Clinicians and scientists of different disciplines will all enjoy and benefit from reading this book.' Journal of Human Genetics
Review of the hardback: 'The strength of this book lies in the depth of the clinical information. ... clinicians, carers and parents will view this collection of clinical reviews as something of a treasure trove. The chapters are all well written, concise and informed. ...definitely a book for the clinical library ...' Human Genetics
" "As in Genre Analysis, Swales skilfully blends extensive knowledge in this area with detailed examples drawn from a variety of sources, including the Michigan Corpus of Academic Spoken English (MICASE). His writing is personal, honest, and humorous and fully captures the influence on the genres on the research world. It offers an important and rich discussion of the complexities involved in approaching and thinking about research genres." The Canadian Modern Language Review
"This is a wonderful, highly specialized tool for clinicians in general." - Luis F. Escobar, MD, Mt. St. Vincent Hospital and Health Care Center

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