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Signature Genomic Laboratories

Researchers Identify Previously Unrecognized Genetic Disorder

Published in Genomics and Genetics Weekly, March 26th, 2010

Researchers from four laboratories that perform diagnostic genetic testing of chromosome abnormalities in individuals with unexplained physical and developmental disabilities recently identified a previously unrecognized genetic disorder.

In their study, published in the American Journal of Human Genetics, researchers at Signature Genomic Laboratories, Nationwide Children's Hospital, Emory University School of Medicine and Baylor College of Medicine independently identified a total of seven individuals with nearly identical-sized deletions, or missing sections of DNA, on one of their two copies of chromosome 17. None of the children's parents had the section of DNA...

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