Turner's syndrome

Before chromosomal analysis became available, the diagnosis of Turner's syn drome was based on the characteristics Independently described by Otto Ullr ich and Henry Turner, such as short stature, gonadal dysgenesis, typical, v isible dysmorphic stigmata, and abnormalities in organs, which present in i ndividuals with a female phenotype. Today, Turner's syndrome or Ullrich-Tur ner's syndrome may be defined as the combination of characteristic physical features and complete or part absence of one of the X chromosomes, frequen tly accompanied by cell-line mosaicism. The increasing interest In Turner's syndrome over the past two decades has been motivated both by the quest fo r a model by which the multi-faceted features of this disorder can be under stood, and the endeavour to provide life-long support to the patient. New d evelopments in research allow patients with Turner's syndrome to have multi disciplinary care.