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.
Data di pubblicazione
14/01/2022
Tipo di gruppo
Altri
Settore:
Educazione
Persone con disabilità
Ricerca
Paese:
Spagna