Proximal duplication of the long arm of chromosome 10 (10q11.2 → 10q22): a distinct clinical entity

This report summarizes the clinical and cytogenetic findings in a 16-year-old moderately mentally retarded girl with 10q11.2----10q22 duplication. The phenotypic findings are identical to those found in one other patient with the same autosomal duplication. These data suggest that proximal 10q11.2-10q22 duplication is associated with a specific clinically recognizable syndrome.