Velo - Cardio - Facial Syndrome - A Model for Understanding Microdeletion Disorders

di Murphy • 2011 • dettagli prodotto

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DESCRIZIONE

Velo-Cardio-Facial Syndrome (VCFS) is a genetic disorder caused by deletion of part of chromosome 22. The focus is clinical issues with chapters devoted to psychiatric disorders, neuroimaging, speech and language, cardiac, ENT, gastrointestinal, ophthalmic and urological manifestations. This 2005 book has been authored by leading international VCFS clinicians and researchers.Table of Contents 1. Historical overview Robert J. Shprintzen2. Molecular genetics of Velo-cardio-facial syndrome Peter Scambler3. Congenital cardiovascular disease and Velo-cardio-facial syndrome Bruno Marino, Federica Mileto, Maria Cristina Digilio, Adriano Carotti and Robert Di Donato4. Palatal anomalies and velopharyngeal dysfunction associated with Velo-cardio-facial syndrome Richard E. Kirschner5. Nephro-urologic, gastrointestinal and opthamic findings Koen Devriendt, Nathalie Rommel and Ingele Casteels6. Immunodeficiency in Velo-cardio-facial syndrome Kathleen E. Sullivan7. Behavioural and psychiatric disorder in Velo-cardio-facial syndrome Angela F. Stevens and Kieran C. Murphy8. The cognitive spectrum in individuals with Velo-cardio-facial syndrome Linda Campbell and Ann Swillen9. Neuroimaging in Velo-cardio-facial syndrome Stephan Eliez and Therese van Amelsvoort10. Speech language disorders Karen J. Golding-Kushner11. Genetic counseling Donna M. McDonald-McGinn and Elaine H. Zackai12. Family issues Julie Squair.