Research: the genetic architecture of Down syndrome

Collaboration between research teams at the University of Utah and Yale University is helping to clarify how genes cause the individual features of Down syndrome, by applying high level genomics technology to the genetic material of people with rare forms of Trisomy 21. They have so far related particular genes to the development of associated conditions such as intellectual disability, Hirschsprung's disease and acute megakaryocytic leukaemia.

The research is reported by the Salt Lake City Trubune here, the Deseret News here, and the full text of the research report is available online here, from PNAS.

Reference:
Korenberg, J and Snyder, M, et al. The Genetic Architecture of Down syndrome phenotypes revealed by high resolution analysis of human segmental trisomies, Proceedings of the National Academy of Sciences, Vol 106, No 29, pp 12031 - 12036, July 21, 2009