Variable phenotypes in velocardiofacial syndrome with chromosomal deletion.

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