[Revisiting establishments of the etiology of Turner syndrome].
Based on an interview with José Carlos Cabral de Almeida, who took part in the investigative process, the article explores the research that culminated in the establishment of the genetic etiology of Turner syndrome. Cabral de Almeida also discusses other work that he sees as landmarks in the birth of cytogenetics and offers his current view of the development of clinicalgenetics and the important role played by cytogenetics, which affords more precise means of diagnosis, prognosis, and control ofgenetic disorders. In its conclusion, the article points to pioneer work that continues to impact medical genetics, especially the study of human chromosomes, still fundamental to the success of linking human genetics and disease processes.
Jung
Monica de Paula
Mde P
Instituto Estadual de Diabetes e Endocrinologia Luiz Capriglione, Rio de Janeiro, RJ, Brasil. monicajung@globo.com
Cardoso
Maria Helena Cabral de Almeida
MH
Villar
Maria Auxiliadora Monteiro
MA
Llerena
Juan Clinton
JC
D001938:Brazil; D049673:History, 20th Century; D006801:Humans; D007407:Interviews as Topic; D007621:Karyotyping; D014424:Turner Syndrome / Q000235:genetics / Q000266:history*