Cytogenomic approach in the diagnostics of inverted duplication/deletion rearrangements
https://doi.org/10.25557/2073-7998.2023.05.54-62
Abstract
The article describes the role of molecular cytogenetic methods in the context of cytogenomic approach of chromosomal abnormalities. Only the use of a complex (cytogenomic) approach in the diagnosis of chromosomal rearrangements makes it possible to detect CNV, as well as to determine the structure and mechanism of the formation of chromosomal imbalance. In our work, we have shown the possibility and importance of using additional research methods on the example of diagnosing and studying inverted duplications with adjacent terminal deletions (inv dup del). The developed homemade DNA-probes made it possible to detail the structure and confirm the hypothesis of the inverted orientation of the duplicated segment using two chromosome rearrangements, inv dup del(7q) and inv dup del(8p), as an example. The demonstrated cytogenomic approach, which allows the interpretation of complex chromosomal rearrangements such as inv dup del, highlights the importance and necessity of personalizing each case of chromosomal abnormality diagnosis.
Keywords
cytogenomic approach,
homemade DNA-probe,
commercial DNA-probe,
FISH,
chromosomal imbalance,
inv dup del,
CNV
Supporting agencies: The work was supported by the state task № 122032300370-1 “Study of structure-functional features and mechanisms of formation of the chromosomal abnormalities and genomic imbalance”.
About the Authors
D. A. Yurchenko
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
M. E. Minzhenkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
A. A. Tveleneva
Center of genetics and reproductive medicine GENETICO
Russian Federation
Russian Federation
3-1, Gubkina st., Moscow, 119333
E. O. Vorontsova
Research Centre for Medical Genetics; Russian National Research Medical University named after N. I. Pirogov, Ministry of Health of Russia
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
1, Ostrovitianov st., Moscow, 117997
T. V. Kharchenko
North-Western State Medical University named after I.I. Mechnikov
Russian Federation
Russian Federation
41, Kirochnaya st., Saint-Petersburg, 191015
N. V. Shilova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
1, Moskvorechye st., Moscow, 115522
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Review
For citations:
Yurchenko D.A., Minzhenkova M.E., Tveleneva A.A., Vorontsova E.O., Kharchenko T.V., Shilova N.V. Cytogenomic approach in the diagnostics of inverted duplication/deletion rearrangements. Medical Genetics. 2023;22(5):54-62. (In Russ.) https://doi.org/10.25557/2073-7998.2023.05.54-62
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