سندرم Velo-قلب-صورتی: مدل برای درک اختلالات مشکوک Velo-Cardio-Facial Syndrome: A Model for Understanding Microdeletion Disorders
- نوع فایل : کتاب
- زبان : انگلیسی
- نویسنده : Kieran C. Murphy ,Peter J. Scambler
- ناشر : Cambridge University Press
- چاپ و سال / کشور: 2005
- شابک / ISBN : 0521821851, 9780521821858, 9780511125928
Description
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.
