The specific aims and objectives of the Velocardiofacial Syndrome Molecular and Clinical Studies Core include: 1) To identify and recruit patients with a 22q11.2 deletion following screening. 2) To clinically evaluate patients found to have a 22q11.2 deletion in the areas which have found to be affected. 3) To establish phenotype-genotype correlations. 4) To continue establishing a clinical database in order to make the correlations in C. 5) To elicit additional sources of patients with deletions. In 1997, 63 new patients were found to have the 22q11.2 deletion, which brings the total number of subjects to 181. Clinical evaluations are being conducted on these patients. there are also 13 patients who are now deceased who were found to have a deletion; these patients had partial evaluations.
Showing the most recent 10 out of 455 publications