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UC Davis researchers define characteristics, treatment options for XXYY syndrome
Date:8/22/2008

(SACRAMENTO, Calif.) Researchers at the UC Davis M.I.N.D. Institute and The Children's Hospital in Denver have conducted the largest study to date describing the medical and psychological characteristics of a rare genetic disorder in which males have two "X" and two "Y" chromosomes, rather than the normal one of each. The study, published in the June 15, 2008, issue of the American Journal of Medical Genetics Part A, also offers treatment recommendations for men and boys with the disorder.

"We found that there are a variety of behaviors, learning disabilities and emotional problems that are unique to patients with XXYY syndrome that may be better addressed with more targeted therapies," said Randi Hagerman, medical director of the M.I.N.D. Institute and senior author of the study. "Our research is important because it provides an accurate picture of what patients are experiencing that can help physicians who treat patients with the disorder."

XXYY syndrome is a sex chromosome anomaly that is thought to occur in about one in 18,000 males in the general population. Boys with XXYY syndrome usually come to the attention of physicians because of unique facial features, developmental delays, late puberty and behavioral problems. It was once thought to be a variant of Klinefelter syndrome, in which males have one extra X chromosome. While the two disorders are similar in some ways, clinicians have become increasingly aware that they are distinct in some significant ways. The current study set out to identify the unique features of patients with XXYY for the purposes of informing the medical community and improving treatment approaches.

"Until now, physicians have had to search the medical literature to patch together a treatment plan mostly based on information on Klinefelter syndrome," said Nicole Tartaglia, an assistant professor of pediatrics at the University of Colorado Denver School of Medicine who was a fellow at the M.I.N.D.
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Contact: Phyllis Brown
phyllis.brown@ucdmc.ucdavis.edu
916-734-9023
University of California - Davis - Health System
Source:Eurekalert

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