Kehitysvammahuollon tietopankki
 | Kirjaesittely |
Murphy, Kieran C. & Scambler, Peter J: Velo-cardio-facial syndrome: A model
for understanding microdeletion disorders, Gambridge University Press 2005, 243
pages, ISBN 0-521-82185-1
Book Info:
Velo-cardio-facial syndrome (VCFS) is a genetic disorder associated with a
deletion of the long arm of chromosome 22. It is the most common interstitial
deletion disorder found in man and affects every major system in the body with
more than 100 physical and behavioural phenotypic features reported. This book,
written by leading international VCFS clinicians and scientists, attempts to
summarise the rapid progress that has recently been made in understanding and
treating people with VCFS. The focus is on clinical issues with chapters devoted
to psychiatric disorders (with particular reference to the high rates of
schizophrenia reported), 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 appeal not just
to clinicians who see VCFS patients, but also to those with interests in other
genetic disorders.
Linkkejä:
Kehitysvamma-alan kirjallisuutta26.12.2005