Identification of modifying copy number variations in healthy carriers of pathogenetically significant CNVs
https://doi.org/10.25557/2073-7998.2021.10.47-49
Abstract
The presence of concomitant chromosomal variants in the genome of a patient or an asymptomatic carrier of aberrations may lead to phenotypic variability of pathogenetically significant CNV. It is supposed, that multiple CNVs has a modifying effect, which can be cumulative or compensatory. The risk associated with a particular CNV changes accordingly. This is of fundamental importance for genetic counseling.
About the Authors
E. O. Belyaeva
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
A. A. Kashevarova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
S. A. Vasiliev
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
N. A. Skryabin
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
M. E. Lopatkina
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
G. V. Drozdov
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
D. A. Fedotov
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
I. N. Lebedev
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
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Review
For citations:
Belyaeva E.O., Kashevarova A.A., Vasiliev S.A., Skryabin N.A., Lopatkina M.E., Drozdov G.V., Fedotov D.A., Lebedev I.N. Identification of modifying copy number variations in healthy carriers of pathogenetically significant CNVs. Medical Genetics. 2021;20(10):47-49. (In Russ.) https://doi.org/10.25557/2073-7998.2021.10.47-49
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