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.
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