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Normal karyotype and cryptic reciprocal translocations in infertility
https://doi.org/10.25557/2073-7998.2025.10.106-110
Abstract
An examination of two families with reproductive dysfunction was conducted. In both families, the spouses had a normal karyotype based on the results of cytogenetic analysis. The study of the karyotypes of embryos during preimplantation genetic testing revealed the presence of partial aneuploidies in the terminal regions of chromosomes. A molecular cytogenetic analysis was performed using specific DNA probes for candidate subtelomeric regions of chromosomes. The women were found to have a balanced translocation: in the first case, between the terminal regions of chromosomes 1 and 10, and in the second case, between chromosomes 7 and 17.
Supporting agencies: The study was carried out with financial support from the Research Institute of Medical Genetics of the Tomsk National Research Medical Center of the Russian Academy of Sciences.
About the Authors
L. I. Minaycheva
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
A. D. Cheremnykh
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
S. L. Vovk
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
Y. S. Yakovleva
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
G. N. Seitova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
10, Naberejnaya Ushaiki, Tomsk, 634050
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Review
For citations:
Minaycheva L.I., Cheremnykh A.D., Vovk S.L., Yakovleva Y.S., Seitova G.N. Normal karyotype and cryptic reciprocal translocations in infertility. Medical Genetics. 2025;24(10):106-110. (In Russ.) https://doi.org/10.25557/2073-7998.2025.10.106-110
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