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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002879:Chromosomes, Human, Pair 10 / Q000648:ultrastructure*; D003103:Coloboma / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007498:Iris / Q000002:abnormalities; D013577:Syndrome