PerspectiveGenetics

The Critical Region in Trisomy 21

Science  22 Oct 2004:
Vol. 306, Issue 5696, pp. 619-621
DOI: 10.1126/science.1105226

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Summary

Down syndrome caused by trisomy of human chromosome 21 is one of the most common genetic diseases, occurring in 1 out of every 700 live births. In their Perspective, Nelson and Gibbs discuss a new mouse model of Down syndrome ( Olson et al.), which shows that triplication of a segment of human chromosome 21 containing 33 critical-region genes does not result in the craniofacial abnormalities typical of the disease. The authors point out that this mouse model refutes the notion that triplication of the 33 critical-region genes is directly responsible for the craniofacial abnormalities of Down syndrome.