Velo-Cardio-Facial Syndrome: A Model for Understanding Microdeletion Disorders
| Author | : | |
| Rating | : | 4.84 (821 Votes) |
| Asin | : | 0521821851 |
| Format Type | : | paperback |
| Number of Pages | : | 256 Pages |
| Publish Date | : | 2014-11-09 |
| Language | : | English |
DESCRIPTION:
Vincent Hospital and Health Care Center . 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. His writing is personal, honest, and humorous and fully captures the influence on the genres on the research world. Escobar, MD, Mt. St. ""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)
VCFS affects every major system in the body and this 2005 book was the first to describe its full clinical impact. 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. Velo-Cardio-Facial Syndrome (VCFS) is a genetic disorder caused by the deletion of part of chromosome 22. It has been authored by leading international VCFS clinicians/researchers. 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.. Molecular genetics, immunodeficiency and genetic counselling are also covered, and practical approaches to diagnosis and treatment described. It occurs in approximately one in 4000 births and there are now more than 100 physical phenotypic features reported
BUPA Foundation Special Merit award; Guthrie medal of the British Paediatric Association. D.O.B 6.11.1958. . Elected Fellow of the Academy of Medical Sciences. D.O.B 14.09.1963
I love it I really love this book. From it you get very good information on 22q11.2 syndrome for physicians and parents. I recommend it!. "Informative and helpful." according to esmo1021. Great book. It is a little too technical in some chapters for a non-medical people, but it is a great book to own.