[Cytogenetic and clinical findings in suspected Turner's syndrome: results of a five-year study of 207 patients (author's transl)].

The hallmark of Turner's syndrome is small stature, primary amenorrhoea with delayed puberty and other congenital defects. Cytogenetic examinations were done over a five-year period of 207 patients of different ages. The diagnosis of Turner's syndrome was confirmed by karyotype in 94 (45.4%), tentatively confirmed by X-chromatin in 11 (5.3%) and in 21 (10.1%) with other disorders involving disturbed sexual development. In 73 cases Turner's syndrome was excluded and in nine the investigation had not been completed by the end of the study. There was a wide spectrum of clinical and cytogenetic findings in the 94 patients with cytogenetically confirmed Turner's syndrome: 50 (53.2%) had karyotype 45,X0; 25 (26.6%) X0/XX mosaic; 19 (20.2%) X-chromosomal structural anomalies with or without additional X0 cell line.