Researchers at Yale University, US, have developed an accurate diagnostic test for Turner syndrome (TS), a genetic defect which obstructs normal growth and leads to cardiac and renal problems.
TS occurs when an x-chromosome is completely or partially deleted, and is not commonly detected until age 10 or older when a youngster’s unusually short height raises suspicions.
The new test, which is based on a quantitative method of genotyping to detect x-chromosome abnormalities, was developed and validated from DNA samples of more than 500 individuals.
In a study, among 90 clinically confirmed TS individuals, the new test correctly identified 87.
Lead author of the study Scott Rivkees said that because of the small amount of DNA needed for the test, sample DNA can be extracted from cheek swabs, or from newborn screening blood spots that are routinely collected.
"If broadly used in the clinical setting at young ages, this test can prevent the delayed recognition of TS," Rivkees said.