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Clinically affected;unbalanced familial chromosome translocation and partial DiGeorge syndrome;truncus arteriosus;type I;T-cell dysfunction;micrognathia;high-arched palate;downslanting palpebral fissures;broad nasal bridge;broad philtrum;normal parathyroid function;paternal chromosomes 46;XY;mother found to have the same unbalanced translocation as affected child;first son born to the mother died at 2 months of age and was thought to have a congenital heart defect;second son born to the mother died at 11 months of age and autopsy found Type I truncus arteriosus;thymic aplasia;and parathyroid hypoplasia.
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