VARIABLE PHENOTYPES IN VELOCARDIOFACIAL SYNDROME WITH CHROMOSOMAL DELETION

Velocardiofacial syndrome (VCF) has overlapping features with DiGeorge sequence; both result from a developmental field defect oad probably represent contiguous gene deletion syndromes. The association of chrom osome 22q11 deletion with DiGeorge sequence led us to do molecular ana lysis of chromosome 22 in 18 patients with VCF, who ranged in age from 6 to 42 years. All 18 patients had monosomy for the chromosome region 22q11. Retrospectively, we correlated the presence of the deletion wi th various clinical findings: 100% had cleft palate, 67% the facial ph enotype, 83% cardiac disease, 94% learning disabilities, 70% ophthalmo logic findings, 50% short stature, 22% psychiatric disorders, and 17% hypocalcemia. Both severely phenotypically affected and mildly affecte d patients hod the deletion. These findings stress the importance of c ontinued surveillance of all patients with VCF for the many medical pr oblems that may not be present at initial diagnosis. We conclude that the presence of the gene deletion does not predict the phenotypic expr ession in VCF. Further studies to characterize the size of the gene de letion may facilitate better prediction of the phenotype.