Complex genomic rearrangements in etiology of the «chromosomal phenotype»
https://doi.org/10.25557/2073-7998.2022.11.44-47
Abstract
We present the results of a molecular-genetic study of 4 patients with complex genomic rearrangements and «chromosomal phenotype», which may include phenotype anomalies, intellectual disabilities, and multiple congenital abnormalities. FISH analysis, CMA and Hi-C were carried out in patients with “apparently” balanced chromosomal rearrangements associated with an abnormal phenotype to identify and estimate the genomic imbalance. The identification of the structure, mechanisms of formation and genomic imbalance in these cases allows us to characterize complex genomic rearrangements and assess individual genetic risks in the family.
About the Authors
M. E. Minzhenkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
Z. G. Markova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
D. A. Yurchenko
Research Centre for Medical Genetics
Russian Federation
Russian Federation
A. A. Tarlycheva
Research Centre for Medical Genetics
Russian Federation
Russian Federation
T. V. Markova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
N. A. Semenova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
A. F. Murtazina
Research Centre for Medical Genetics
Russian Federation
Russian Federation
V. V. Kadyshev
Research Centre for Medical Genetics
Russian Federation
Russian Federation
M. M. Gridina
Federal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences; Novosibirsk State University
Russian Federation
Russian Federation
E. . Viesná
Federal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences; Novosibirsk State University
Russian Federation
Russian Federation
V. S. Fishman
Federal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences; Novosibirsk State University
Russian Federation
Russian Federation
N. V. Shilova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
References
1. Schluth-Bolard C., Delobel B., Sanlaville D., et al. Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases. Eur J Med Genet. 2009;52(5):291-296.
2. Zhang F., Carvalho C.M., Lupski J.R.Complex human chromosomal and genomic rearrangements. Trends Genet. 2009;25(7):298-307. doi:10.1016/j.tig.2009.05.005
3. Gridina M., Mozheiko E., Valeev E., Nazarenko L.P., Lopatkina M.E., Markova Z.G., Yablonskaya M.I., Voinova V.Y., Shilova N.V., Lebedev I.N., Fishman V. A cookbook for DNase Hi-C. Epigenetics Chromatin. 2021 Mar 20;14(1):15. doi: 10.1186/s13072-021-00389-5.
4. Feenstra I., Hanemaaijer N., Sikkema-Raddatz B., et al. Balanced into array: Genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a metaanalysis. Eur J Hum Genet. 2011;(19):1152-1160.
5. Higgins A.W. et al. Characterization of apparently balanced chromosomal rearrangements from the Developmental Genome Anatomy Project. Am J Hum Genet. 2008;82:712-722.
6. Lupia´n˜ez D.G., Kraft K., Heinrich V. et al. Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions. Cell. 2015;161:1012-1025.
7. Aristidou K. et al., Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases. PLoS ONE. 2018;13:10. https://doi.org/10.1371/journal.pone.0205298
Review
For citations:
Minzhenkova M.E., Markova Z.G., Yurchenko D.A., Tarlycheva A.A., Markova T.V., Semenova N.A., Murtazina A.F., Kadyshev V.V., Gridina M.M., Viesná E., Fishman V.S., Shilova N.V. Complex genomic rearrangements in etiology of the «chromosomal phenotype». Medical Genetics. 2022;21(11):44-47. (In Russ.) https://doi.org/10.25557/2073-7998.2022.11.44-47
Views:
300
Email this article 