Definition of Down syndrome critical region

Reviewed on 6/3/2021

Down syndrome critical region: (Abbreviated DSCR) A region on the long (q) arm of chromosome 21 thought to be responsible for some, if not all, of the features of Down syndrome. A number of genes in this region may be involved in the production of the Down syndrome phenotype.

These genes may include the Down syndrome critical region 1 gene or DSCR1 on chromosome 22q11.2; DSCR2 on chromosome 21q22.3; DSCR3 in chromosome 21q22.2; DSCR4 on chromosome 21q22.2; and DSCR5 in chromosome region 21q22.1-q22.2.

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