Aroa Casado
Barcelona, Espanha
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Turner syndrome (TS) (ORPHA:881, ICD-10: Q96) is a chromosomal disorder characterized by the total absence (pure 45XO karyotype) or partial absence of the X chromosome (mosaic karyotype) with a prevalence of 1:5000 live births ( 1:2500 female births). The clinical findings of the syndrome are heterogeneous and the phenotype is usually mild or absent. Research is essential to better know and understand TS.