A 10.43Mb duplication of chromosome region 5q31.2-q32 associated with a general delay in psychomotor development

We report a 4-year, 4-month-old male with a 10.43Mb duplication of chromosome region 5q31.2-q32 presenting with a general delay in psychomotor development including moderate to severe intellectual disability, language delays and gross and fine motor delays. Based on comparison with the only case of a similar duplication reported in the literature, we suspect that an extra copy of PURA in our patient may be involved in the early onset intellectual disability and seizures. Further studies and reports of cases with similar duplications could provide additional information about the influence of this gene on the phenotype of patients with a 5q31.2-q32 duplication.

Source: Meta Gene - September 6, 2016 Category: Genetics & Stem Cells Source Type: research