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 de publicação
14/01/2022
Tipo de Grupo
Outros
Âmbito
Educação
Incapacidades
Investigação científica
País
Espanha