Dynamic Tissue-Specific Mosaicism of a ring chromosome
https://doi.org/10.25557/2073-7998.2022.11.56-58
Abstract
Ring chromosome 13 is a rare type of chromosome structural abnormalities. A change in the linear structure of the chromosome into a circular one causes its mitotic instability, leading to somatic dynamic mosaicism, which results in the formation of cell clones with various secondary numerical and structural chromosomal rearrangements. We report here a study on ring chromosome 13 instability in lymphocyte and fibroblast cultures established from a child with developmental delay, microcephaly and congenital abnormalities. The cytogenomic analysis revealed a different structure of secondary genomic imbalance, variable levels of dynamic mosaicism and selective karyotype evolution.
About the Authors
N. V. Shilova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
M. E. Minzhenkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Zh. G. Markova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
A. A. Tarlycheva
Research Centre for Medical Genetics
Russian Federation
Russian Federation
D. A. Yurchenko
Research Centre for Medical Genetics
Russian Federation
Russian Federation
V. Yu. Tabakov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
A. O. Borovikov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
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Review
For citations:
Shilova N.V., Minzhenkova M.E., Markova Zh.G., Tarlycheva A.A., Yurchenko D.A., Tabakov V.Yu., Borovikov A.O. Dynamic Tissue-Specific Mosaicism of a ring chromosome. Medical Genetics. 2022;21(11):56-58. (In Russ.) https://doi.org/10.25557/2073-7998.2022.11.56-58
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