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

Abstract
This report summarizes the clinical and cytogenetic findings in a 16-year-old moderately mentally retarded girl with 10q11.2 .fwdarw. 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.