Park J P, McDermet M K, Moeschler J B, Wurster-Hill D H
Department of Pathology, Dartmouth-Hitchcock Medical Center, Lebanon, N. H. 03756.
Ann Genet. 1993;36(4):217-20.
A patient with a de novo duplication of 7pter-->7p12 and deletion of distal 10p resulting from an unbalanced translocation is described. The patient's phenotype demonstrates features associated with other reported cases with similar imbalances which include hypertelorism, Dandy-Walker malformations, ventricular septal defect, bilateral cleft lip and palate, abnormal hand positions and clubbed feet, hypospadias, and imperforate anus.