Genetics Leaflet
This information has been compiled from various resources including the Max Appeal Consensus Document on the Diagnosis and Management of 22q11.2 deletion, and references and sources of evidence are freely available using the contact details above.
The purpose of this Information Leaflet is to inform parents, carers and the general public about the genetic basis of the 22q11.2 deletion, the diagnostic tests and prenatal examinations. It has been endorsed as ‘clear and accurate’ by Professor Peter Scambler at the Molecular Medicine Unit at the Institute of Child Health, University College London who is a medical advisor to Max Appeal. Also comment and input has been gratefully received from Dr Jenny Morton, Consultant Clinical Geneticist at Birmingham Women’s Hospital. Review by Max Appeal parent users has been undertaken. Further comments are warmly welcomed.