Velo-Cardio-Facial Syndrome: A Model for Understanding by Kieran C. Murphy,Peter J. Scambler PDF

By Kieran C. Murphy,Peter J. Scambler

Velo-Cardio-Facial Syndrome (VCFS) is a genetic ailment as a result 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 beneficial properties stated. VCFS impacts each significant method within the physique and this 2005 booklet was once the 1st to explain its complete scientific influence. it's been authored through top overseas VCFS clinicians/researchers. the focal point is on medical matters with chapters dedicated to psychiatric problems (with the patient displaying 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 useful ways to prognosis and therapy defined. As VCFS is noticeable as a paradigm for different microdeletion issues, this booklet won't simply entice clinicians seeing VCFS sufferers, but additionally to these drawn to different genetic disorders.

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Velo-Cardio-Facial Syndrome: A Model for Understanding Microdeletion Disorders by Kieran C. Murphy,Peter J. Scambler

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