Clinical Features and Karyotype of Shereshevsky Turner Syndrome in Uzbek Population
Year: 2024
Type: article
Abstract: Molecular cytogenetic technologies that have emerged in recent years have expanded the possibilities of explaining the clinical polymorphism of this syndrome by creating genetic maps of sex chromosomes. Purpose of the study: comparative analysis of clinical features distribution in groups with different variants of karyotype disorders in Uzbek population. Material and methods: 18 phenotypic features in 79 patients with Shereshevsky-Turner syndrome were analyzed. Results of the study: minimal diagnostic features occurring with a frequency of at least 85% were identified. Multivariate statistical analysis was performed and 4 groups of karyotypes of patients with different phenotypic features in Uzbek population were identified. The results were compared with published data of molecular cytogenetic studies. Conclusions: The group of patients with mosaic karyotype (45, X / 40, XX) was the least loaded with pathological traits. Groups with karyotype 48, X and structural abnormalities were similar in the distribution of phenotypic traits
Author: Akhmedova K.R., Alimova N.U., Makhmudova M.M., Akhmedova D.R.
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W6930459085
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