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

Klappentext A definitive 2005 text describing the diagnosis, treatment and molecular biology of Velo-cardio-facial Syndrome. Zusammenfassung 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. Inhaltsverzeichnis 1. Historical overview Robert J. Shprintzen; 2. Molecular genetics of Velo-cardio-facial syndrome Peter Scambler; 3. Congenital cardiovascular disease and Velo-cardio-facial syndrome Bruno Marino, Federica Mileto, Maria Cristina Digilio, Adriano Carotti and Robert Di Donato; 4. Palatal anomalies and velopharyngeal dysfunction associated with Velo-cardio-facial syndrome Richard E. Kirschner; 5. Nephro-urologic, gastrointestinal and opthamic findings Koen Devriendt, Nathalie Rommel and Ingele Casteels; 6. Immunodeficiency in Velo-cardio-facial syndrome Kathleen E. Sullivan; 7. Behavioural and psychiatric disorder in Velo-cardio-facial syndrome Angela F. Stevens and Kieran C. Murphy; 8. The cognitive spectrum in individuals with Velo-cardio-facial syndrome Linda Campbell and Ann Swillen; 9. Neuroimaging in Velo-cardio-facial syndrome Stephan Eliez and Therese van Amelsvoort; 10. Speech language disorders Karen J. Golding-Kushner; 11. Genetic counseling Donna M. McDonald-McGinn and Elaine H. Zackai; 12. Family issues Julie Squair.

Dettagli sul prodotto

• Autori: Kieran C. (Education and Research Centre Murphy, Kieran C. Scambler Murphy
• Con la collaborazione di: Kieran C. Murphy (Editore), Murphy Kieran C. (Editore), Peter J. Scambler (Editore), Scambler Peter J. (Editore)
• Editore: Cambridge University Press ELT
• Lingue: Inglese
• Formato: Tascabile
• Pubblicazione: 23.12.2010
• EAN: 9780521184328
• ISBN: 978-0-521-18432-8
• Pagine: 258
• Categorie: Scienze naturali, medicina, informatica, tecnica > Medicina > Branche non cliniche; MEDICAL / Psychiatry / General, MEDICAL / Pediatrics, MEDICAL / Genetics, Psychiatry, Medical Genetics, Paediatric medicine, Paediatric medicine / child and adolescent medicine