Clinical and karyotypical characteristics of the Shereshevsky-Turner syndrome

Abstract

The incidence of 18 phenotypical signs was analyzed in 82 patients with the Shereshevvky-Turner syndrome. The minimal diagnostic signs occurring with at least 50% incidence have been singled out. Comparative analysis of the distribution of clinical signs in groups with different variants of karyotype disorders showed that the group of patients with the mosaic karyotype (45,X/40,XX) was the least loaded with pathological signs. Groups with karyotype 48,X and structural disorders are similar in the distribution of phenotypical signs. Multidimensional statistical cluster analysis of the matrix of summary phenotypical distances was carried out and a cluster singled out which permitted unification of 4 groups of patients with different karyotype disorders. The results are compared with published data of molecular cytogenetic studies.