Download E-books Velo-Cardio-Facial Syndrome: A Model for Understanding Microdeletion Disorders PDF

Velo-Cardio-Facial Syndrome (VCFS) is a genetic affliction because of the deletion of a part of chromosome 22. It happens in nearly one in 4000 births and there are actually greater than a hundred actual phenotypic good points said. VCFS impacts each significant process within the physique and this 2005 e-book used to be the 1st to explain its complete scientific impression. it's been authored via best overseas VCFS clinicians/researchers. the point of interest is on medical matters with chapters dedicated to psychiatric issues (with the patient exhibiting very excessive degrees of schizophrenia), neuroimaging, speech and language problems, in addition to cardiac, ENT, gastrointestinal, ophthalmic and urological manifestations. Molecular genetics, immunodeficiency and genetic counselling also are coated, and functional techniques to prognosis and therapy defined. As VCFS is visible as a paradigm for different microdeletion problems, this e-book won't simply entice clinicians seeing VCFS sufferers, but additionally to these attracted to different genetic problems.

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