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Studies of this sort have recently shown that a region of chromosome 21 thought to be critical for producing the key characteristics of Down syndrome (referred to as the Down syndrome critical region or DSCR) does NOT in fact produce the Down syndrome phenotype in mice, at least not in and of itself.
We believe that given the predominantly placental origin of fetal RNA in maternal plasma, new markers could be developed for Down syndrome screening using the placental RNA in maternal plasma if they fulfill the following criteria: (a) the genes analyzed should be encoded by chromosome 21; (b) they should be located within the Down syndrome critical region (DSCR); (c) they should be expressed in healthy early placental tissue; (d) they should be overexpressed by the placenta in trisomy 21 pregnancies; and (e) they should be detectable in maternal plasma during early pregnancy.
This segment includes the mouse homolog of the Down syndrome critical region of human chromosome 21.