A child is described with a de novo direct duplication of the region 2q11·2→2q14·2. 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.
|Original language||English (US)|
|Number of pages||2|
|Journal||Journal of Medical Genetics|
|State||Published - 1984|
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