Research News: New Genetic Syndrome Linked to Missing DNA | Howard Hughes Medical Insti... - 0 views
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Lottie Peppers on 25 Jun 14[ February 17, 2008 ] People who lack a certain large segment of DNA have a previously unrecognized syndrome characterized by mental retardation, seizures, and slight physical abnormalities, according to a genetic analysis conducted by HHMI investigator Evan E. Eichler at the University of Washington School of Medicine and a team of international collaborators. The deleted DNA segment is responsible for just a small percentage of cases of mental retardation, but "when you think about how common mental retardation is," Eichler says, "this deletion has a significant impact on human health."