Revisitando o desvendamento da etiologia da síndrome de Turner

Abstract

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 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.

Cytogenetic Diagnosis and Analysis of the Clinical Profile of Individuals with Non-down Syndrome Intellectual Disability

“…Some dysmorphological characteristics compose the phenotype, such as short and webbed neck, hair low-set on the neck, shield chest, short stature, etc. and patients may also have hearing problems, visual disturbances, learning disabilities and infertility, among other renal and cardiac disorders [26,27]. In case APAE-17 the dysmorphological findings were consistent with certain aspects of the phenotype described in the literature, as the subject presented a short and webbed neck, short stature and learning difficulties.…”

“…The chromosome constitution found was 45, X. According to the literature, Turner syndrome presents an incidence of 1/2500 in females [25][26][27]. Some dysmorphological characteristics compose the phenotype, such as short and webbed neck, hair low-set on the neck, shield chest, short stature, etc.…”