Mayo Clinic researchers have identified a genetic syndrome -- an inherited birth disorder characterized by learning disabilities, facial malformations, impaired organs and mental retardation. It has been previously misdiagnosed or undiagnosed.
Researchers also discovered the syndromes genetic basis: a rearrangement of DNA called "microduplication." When microduplication occurs, DNA segments are repeated and this causes a surplus of genes. Microduplication is a little-studied mechanism underlying the origin of human diseases, and Mayo Clinic researchers are in the forefront of scientists producing evidence for its impact. Their work is made possible by the February 2001 completion of the federal Human Genome Project, the mapping of all the major genes in the human body. It has produced a database that describes the DNA sequences of the entire human complement of genes, which is estimated to be around 30,000 genes. The Mayo Clinic research, "Microduplication 22q11.2: An Emerging Syndrome," appears in the November American Journal of Human Genetics (73:1027-40)
Bob Nellis | EurekAlert!
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