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Article ID: CBB000932954

Revisitando o desvendamento da etiologia da síndrome de Turner (2009)

Jung, Monica de Paula (Author)
et al. (Author)

História, Ciências, Saúde---Manguinhos
Volume: 16
Pages: 361--376

Publication Date: 2009
Edition Details: English title: [Revisiting Establishment of the Etiology of Turner Syndrome]
Language: Portuguese

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Genetics Medical geography; Etiology Medical genetics Interviews Cytogenetics 20th century, late Cabral de Almeida, José Carlos

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. We chose as our topical focus the preparation and writing of an article written by Cabral de Almeida et al, and originally published in The Lancet in 1959, entitled "A sex-chromosome anomaly in a case of gonadal dysgenesis (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 clinical genetics and the important role played by cytogenetics, which affords more precise means of diagnosis, prognosis, and control of genetic 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.

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