Turner Syndrome Genotype and Phenotype and Their Effect on Presenting Features and Timing of Diagnosis

Abstract excerpt

BACKGROUND: Turner syndrome (TS) is a common genetic disorder caused by abnormalities of the X chromosome. We aimed to describe the phenotypic characteristics of TS patients and evaluate their association with presenting clinical characteristics and time at diagnosis. METHODS: We studied females diagnosed with TS at King Abdul Aziz Medical City (KAMC), Riyadh between 1983 and 2010. Patients were classified based...