Journal of Down Syndrome & Chromosome Abnormalities
Open Access

Downs Syndrome Online Journals

Research of Down syndrome-related genes is placed on studying the genes located on chromosome 21. In general, this leads to an overexpression of the genes. Understanding the genes involved may help to target medical treatment to individuals with Down syndrome. It is estimated that chromosome 21 contains 200 to 250 genes. Recent research has identified a region of the chromosome that contains the main genes responsible for the pathogenesis of Down syndrome, located proximal to 21q22.3. The search for major genes involved in Down syndrome characteristics is generally in the region 21q21–21q22.3. Research by Arron et al. shows that some of the phenotypes associated with Down syndrome can be related to the disregulation of transcription factors and in particular NFAT. NFAT is controlled in part by two proteins, DSCR1 and DYRK1A; these genes are located on chromosome-21.