E. V. Baronova

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It is known that the frequency of chromosomal abnormalities among spontaneous miscarriages of the first trimester of pregnancy makes 50-60%. Research of karyotypes of chorionic villus cells of miscarriages has been conducted by combining the standard cytogenetic method and the FISH analysis on interphase nuclei of centromeric specific DNA samples by the(More)
Cytogenetic and molecular cytogenetic characteristics have been studied in 210 couples with fertility problems. The patients’ karyotypes contained various chromosomal rearrangements in 46 cases (10.95%). The structural chromosomal rearrangements such as pericentric inversions, Robertsonian translocations, balanced reciprocal translocations, and marker(More)
We present the prenatally identified case of mosaicism of chromosome 16 trisomy. A patient with the pregnancy complicated in the first trimester by the threat of breaking was refered to the high risk group according to the results of the screening program. The ultrasonic research revealed a number of phenotypical pathologies in 19-weeks-old fetus such as(More)
Results of cytogenetic and molecular-cytogenetic inspection of 210 matrimonial pairs with the problems of reproduction are presented. Different types of chromosomal aberrations have been detected in the karyotypes of the patients in 46 (10.95%) cases. Such structural chromosomal aberrations as pericentric inversions, Robertsonian translocations, balanced(More)
The results of a molecular cytogenetic study of the material of spontaneous abortions and nonprogressive pregnancies in the first trimester in 43 couples who were treated with various ART methods are presented in this paper. Chromosomal pathologies (CPs) were present in 28 (65%) samples of chorionic villi. A comparative analysis of the frequency and types(More)
The results of molecular cytogenetic study of spontaneous abortions and material non progressive pregnancies in the first trimester in 43 couples who were treated with various methods of ART are presented in this report. Chromosomal pathology (CP) was present in 28 (65 %) samples of chorionic villi. A comparative analysis of the frequency and types of CPs(More)
Four cases of patients with additional marker chromosomes are described. The clinical, cytogenetic and molecular cytogenetic methods have been used for investigation. The identification of marker chromosomes was made by using in situ hybridization and the collection of chromosome-specific DNA probes. All marker chromosomes were determined as originated from(More)
The analysis of the cytogenetic anomalies frequencies in children with inborn defects of development was carried out, and the comparative evaluation of involving in cytogenetic anomalies of the individual chromosomes was determined. Chromosomes 9, 13 and 18 were most frequently involved in chromosomal anomalies. There no direct relations were revealed(More)
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