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Pilot study for neonatal detection of Turner Syndrome

Abstract

The Turner´ syndrome (TS) can be characterized by the partial or total loss of the second sexual chromosome, and is present in 1:2500 live born girls. Early recognition allows adequate therapy for short stature and pubertal development. Neonatal detection of TS also permits the complete investigation of congenital malformations, minimizing or preventing long term associated sequelae. No cost effective protocol has been described for neonatal detection of TS in a large scale. This study aim to develop a cost effective pilot program employing molecular methodology for neonatal identification of TS, by using quantitative real time PCR technique directed to ARSE gene located on chromosome X, and present in two copies in normal women. With this technique, a numeric reduction in X chromosome can be detected, allowing the diagnosis of TS in DNA obtained from filter paper stored blood samples. (AU)

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