CLINICAL AND PHENOTYPIC SIGNIFICANCE OF MOLECULAR CYTOGENETIC EXAMINATION (FISH) IN SHERESHEVSKY-TURNER SYNDROME
Keywords:
Shereshevsky-Turner syndrome, FISH (fluorescent in situ hybridization), clinical and phenotypic manifestations.Abstract
Shereshevsky-Turner syndrome (SHT) is a chromosomal disease caused by complete or partial monosomy on the X chromosome in women (karyotype 45, X or mosaic variants). Diagnosis of this syndrome is usually carried out by karyotyping, however, more and more attention has recently been paid to molecular genetic methods such as FISH (fluorescent in situ hybridization), which is an important tool for clarifying the diagnosis. However, it should be used in combination with other methods to obtain a complete picture of genetic disorders. Research materials and methods. We conducted a comparative analysis of FISH (fluorescent in situ hybridization) diagnostics in 64 patients with different CST genotypes who applied to the scientific and polyclinic department of the Russian National Research Medical Center. Academician E.H. Turakulov, as well as in the Russian Scientific and Cultural Center ZMiR from 2021-2024. The results of the conducted research. According to the FISH diagnosis, the girls had a karyotype of 45,X, which means that one X chromosome is missing. FISH diagnostics of the DXZ1 and DYZ3 locus, which is used to confirm the presence or absence of the X or Y chromosome, showed that the majority of girls had two copies of DXZ1 in all cells (100%). This may indicate that two X chromosomes are present in these cells, but at the same time, mosaicism is observed in girls, which may affect the variability of clinical manifestations of Shereshevsky-Turner syndrome. The presence of cells with a normal karyotype (46,XX) or additional X chromosomes (47,XXX) can alleviate the symptoms. Analysis of the data obtained from some girls revealed mosaicism involving the male karyotype DYZ3 (46,XY), which requires additional genetic analysis and attention. Conclusions. The study confirmed the high diagnostic value of the FISH method in the management of patients with Shereshevsky-Turner syndrome, emphasizing the need for its widespread implementation in clinical practice.
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