CLINICAL FEATURES AND KARYOTYPE OF SHERESHEVSKY TURNER SYNDROME IN UZBEK POPULATION
Journal Title: International scientific journal Science and Innovation - Year 2024, Vol 3, Issue 11
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
Authors and Affiliations
Akhmedova K. R. , Alimova N. U. , Makhmudova M. M. , Akhmedova D. R.
Keywords
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- EP ID EP755304
- DOI 10.5281/zenodo.14220126
- Views 40
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