Prevalence and spectrum of single-gene CNVs in patients with intellectual disability
https://doi.org/10.25557/2073-7998.2021.10.44-46
Abstract
Single-gene CNVs were observed in 4.4% of patients with intellectual disabilities and developmental delay and were characterized by such criteria as type (deletion/duplication), localization, and origin. It has been shown that not all single-gene variants identified by aCGH can be confirmed by real-time PCR.
About the Authors
A. A. Kashevarova
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
E. O. Belyaeva
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
G. V. Drozdov
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
L. P. Nazarenko
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
References
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Review
For citations:
Kashevarova A.A., Lopatkina M.E., Belyaeva E.O., Fedotov D.A., Drozdov G.V., Nazarenko L.P., Lebedev I.N. Prevalence and spectrum of single-gene CNVs in patients with intellectual disability. Medical Genetics. 2021;20(10):44-46. (In Russ.) https://doi.org/10.25557/2073-7998.2021.10.44-46
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