Article
Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype.
Journal of medical genetics - 1 Oct 1993
Holder S E, Winter R M, Kamath S, Scambler P J
Abstract excerpt
We report a mother and daughter with features of the velocardiofacial (VCF) syndrome and monosomy for 22q11 identified using molecular techniques. The mother had surgery as a child for a cleft palate and a congenital heart defect, and her facial features were consistent with the diagnosis. The daughter had developmental delay, absent speech, scoliosis, and similar facial features, but no cleft palate or...
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