The specific aims and objectives of the Velocardiofacial Syndrome Molecular and Clinical Studies Core include: (1) to identify patients with a 22q11.2 deletion following screening. These patients will be recruited by screening patients from (a) cardiology - patients with conotruncal cardiac anomalies, (b) cleft palate clinic - patients with overt or submucosal cleft palate or velopharyngeal incompetance (VPI), (c) genetics - patients referred with dysmorphia, hypocalcemia, or any combination of the above structural anomalies, (d) immunology - patients with immune deficiencies as seen in DiGeorge syndrome, and (e) endocrinology - patients wit growth hormone deficiency. Molecular evaluation will be conducted. Cell lines will be established on all deleted patients. (2) To clinically evaluate patients found to have a 22q11.2 deletion in the areas which have been found to be affected: genetics, cardiology, plastic surgery, speech pathology, child development, neurology, psychology, psychiatry, dentistry, anthropology, immunology, endocrinology and rheumatology. (3) To establish phenotype-genotype correlations. (4) To continue compiling a clinical database in order to make the correlations. (5) To elicit additional sources of patients with deletions.

Project Start
Project End
Budget Start
Budget End
Support Year
32
Fiscal Year
1996
Total Cost
Indirect Cost
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