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Mayo Clinic researchers discover genetic syndrome linked to inherited birth disorder

dical geneticist and professor at the Mayo Clinic College of Medicine and the study's chief author.

While some symptoms can be treated, the syndrome cannot be cured until researchers discover a gene therapy to repair the microduplication errors. Precisely defining the new syndrome will help physicians care for their patients, but the work's immediate importance is the insight it provides for genetic counseling. Says Dr. Jalal, "Microduplication now needs to be considered and investigated when some features or symptoms overlap with commonly occurring microdeletion disorders. This gives clinicians more information in providing the best care to patients and in understanding heritable diseases of a family's genome." He adds that routine chromosome analysis can easily miss this duplication. Use of FISH (fluorescent DNA) probes is required.

This discovery also is important because it provides evidence for a class of new genetic errors known as "genomic arrangement" as a precondition leading to disease. Most often the opposite kind of errors -- microdeletion -- is studied and associated with disease. While the contributions of microdeletions to disease were well-known, Dr. Jalal was curious to know what would happen if the DNA were rearranged by the less-studied condition involving microduplication. "One of the things I've been concerned about for a long time is how structural abnormalities arise,'' he explains.

"If you think about spontaneous miscarriages, 50 percent or more actually have a chromosomal problem. Recent large-population studies of miscarriages show that something like eight in 1,000 newborns have a chromosome problem. So chromosomal abnormalities are a part of the human experience, and are more significant than most people realize."

The Mayo Clinic research team collaborated with investigators in North Carolina, Maine, California and Georgia to define traits that constitute a new medical syndrome. They based their concl
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