De novo direct tandem duplication of the proximal long arm of chromosome 2: 46,XX,dir dup(2)(q11 X 2q14 X 2).
A child is described with a de novo direct duplication of the region 2q11 X 2 leads to 2q14 X 2. She probably represents the first reported case of proximal 2q duplication. The abnormalities included short stature, microcephaly, brachycephaly, depressed nasal bridge, prominent philtrum, congenital glaucoma, and mental retardation.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002900:Chromosomes, Human, 1-3 / Q000648:ultrastructure*; D005260:Female; D005901:Glaucoma / Q000151:congenital; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping