The Critical Region in Trisomy 21

作者: David L Nelson , Richard A Gibbs

DOI: 10.1126/SCIENCE.1105226

关键词: TrisomyCraniofacial abnormalityChromosome 21BiologyDown syndromeGenetics

摘要: Down syndrome caused by trisomy of human chromosome 21 is one the most common genetic diseases, occurring in 1 out every 700 live births. In their Perspective, [Nelson and Gibbs][1] discuss a new mouse model ([ Olson et al .][2]), which shows that triplication segment containing 33 critical-region genes does not result craniofacial abnormalities typical disease. The authors point this refutes notion directly responsible for syndrome. [1]: http://www.sciencemag.org/cgi/content/full/306/5696/619 [2]: http://www.sciencemag.org/cgi/content/short/306/5696/687

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