Abstract
An 18-year-old severely mentally and physically retarded boy was found to have an unbalanced chromosome complement 47,XY, + 14q-. He had the characteristic facial dysmorphis, abnormal hands, and other features described previously in cases of partial trisomy 14, but appears to be the oldest case reported. His mother is a reciprocal translocation carrier, and lack of other carriers in the family is noteworthy.
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