Innovations

Down syndrome research should look at the whole cell, not just the extra chromosome, scientists say

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Research on understanding the effect of extra chromosomes for conditions like Down syndrome typically involves examining what genes play a role in the symptoms of these conditions. However, researchers from Germany and the U.S. propose a new way of looking at these conditions, suggesting that when an extra chromosome is present, the impact on the cell depends less on which chromosome is duplicated and more on the presence of extra DNA. This work appears in a review published December 1 in the American Journal of Human Genetics.

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