Velo-Cardio-Facial Syndrome A Model for Understanding Microdeletion Disorders
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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 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.
List price: $144.00
Copyright year: 2005
Publisher: Cambridge University Press
Publication date: 6/30/2005
Size: 7.00" wide x 9.75" long x 0.75" tall
|Molecular genetics of velo-cardio-facial syndrome|
|Congenital cardiovascular disease and velo-cardio-facial syndrome|
|Palatal anomalies and velopharyngeal dysfunction associated with velo-cardio-facial syndrome|
|Nephro-urologic, gastrointestinal, and ophthalmic findings|
|Immunodeficiency in velo-cardio-facial syndrome|
|Behavioral and psychiatric disorder in velo-cardio-facial syndrome|
|The cognitive spectrum in velo-cardio-facial syndrome|
|Neuroimaging in velo-cardio-facial syndrome|
|Speech and language disorders in velo-cardio-facial syndrome|