VELOCARDIOFACIAL SYNDROME IN A MOTHER AND DAUGHTER - VARIABILITY OF THE CLINICAL PHENOTYPE

We report a mother and daughter with features of the velocardiofacial (VCF) syndrome and monosomy for 22q11 identified using molecular techn iques. The mother had surgery as a child for a,cleft palate and a cong enital heart defect, and her facial features were consistent with the diagnosis. The daughter had developmental delay, absent speech, scolio sis, and similar facial features, but no cleft palate or congenital he art defect. These cases illustrate the considerable intrafamilial vari ability of the phenotype of VCF syndrome. The clinical and molecular d iagnosis of this syndrome is discussed. The phenotypic variability of the VCF syndrome means that many cases may be undiagnosed.