A highly sensitive, high-throughput assay for the detection of Turner syndrome.

@article{Rivkees2011AHS,
  title={A highly sensitive, high-throughput assay for the detection of Turner syndrome.},
  author={Scott A. Rivkees and Karl Hager and Seiyu Hosono and Anastasia L. Wise and Peining Li and Henry M. Rinder and Jeffrey R. Gruen},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2011},
  volume={96 3},
  pages={699-705}
}
OBJECTIVE Turner syndrome (TS) occurs when an X-chromosome is completely or partially deleted or when X-chromosomal mosaicism is present. Girls with TS benefit from early diagnosis and treatment with GH; however, many girls with TS are not detected until after 10 yr of age, resulting in delayed evaluation and treatment. METHODS We developed a high-throughput test for TS, based on a quantitative method of genotyping to detect X-chromosome abnormalities. This test uses pyrosequencing to… CONTINUE READING