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An algorithm for interpreting the clinical significance of chromosomal microduplications in undifferentiated forms of intellectual disorders
https://doi.org/10.25557/2073-7998.2020.03.25-27
Abstract
The identification of chromosomal abnormalities at the submicroscopic level and the establishment of their role in the etiology of intellectual disorders are an important scientific and practical task. Evaluation of the pathogenic value of the less studied type of copy number variation - chromosomal microduplication - is an actual issue. The study proposed an algorithm for interpreting the clinical significance of partial trisomies, which is an integral component in the diagnosis and prevention of chromosomal diseases.
About the Authors
E. O. Belyaeva
Research Institute of Medical Genetics, Tomsk National Research Medical Center RAS
Russian Federation
Russian Federation
L. P. Nazarenko
Research Institute of Medical Genetics, Tomsk National Research Medical Center RAS
Russian Federation
Russian Federation
I. N. Lebedev
Research Institute of Medical Genetics, Tomsk National Research Medical Center RAS
Russian Federation
Russian Federation
Review
For citations:
Belyaeva E.O., Nazarenko L.P., Lebedev I.N. An algorithm for interpreting the clinical significance of chromosomal microduplications in undifferentiated forms of intellectual disorders. Medical Genetics. 2020;19(3):25-27. (In Russ.) https://doi.org/10.25557/2073-7998.2020.03.25-27
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