Short stature though not a major concern in children may sometimes indicate a condition known as Turner syndrome. Generally targeting girls, this condition apparently is a genetic defect that short-circuits normal growth and triggers cardiac as well as renal problems. Scientists from the Yale School of Medicine have introduced an inexpensive, accurate and practical diagnostic test for Turner syndrome.
The test is reportedly based on a quantitative method of genotyping to detect X-chromosome abnormalities. It was possibly developed and validated from DNA samples of approximately 500 individuals. From a total of 90 clinically confirmed TS individuals, the test supposedly identified 87 cases.
The new diagnostic test crafted by Scott Rivkees, M.D., professor of pediatrics at Yale School of Medicine, lead investigator and colleagues is quicker, less expensive and can be put to use in a doctor’s office. It can possibly detect other health conditions associated with TS, like potential renal and cardiac problems, in the early stages itself. The test may help restrict the delayed recognition of TS.
The research is published online and will appear in an upcoming March 2011 print issue of The Endocrine Society’s Journal of Clinical Endocrinology and Metabolism.