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
Россия
Россия
Z. G. Markova
Research Centre for Medical Genetics
Россия
Россия
D. A. Yurchenko
Research Centre for Medical Genetics
Россия
Россия
A. A. Tarlycheva
Research Centre for Medical Genetics
Россия
Россия
T. V. Markova
Research Centre for Medical Genetics
Россия
Россия
N. A. Semenova
Research Centre for Medical Genetics
Россия
Россия
A. F. Murtazina
Research Centre for Medical Genetics
Россия
Россия
V. V. Kadyshev
Research Centre for Medical Genetics
Россия
Россия
M. M. Gridina
Federal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences; Novosibirsk State University
Россия
Россия
E. . Viesná
Federal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences; Novosibirsk State University
Россия
Россия
V. S. Fishman
Federal Research Center Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences; Novosibirsk State University
Россия
Россия
N. V. Shilova
Research Centre for Medical Genetics
Россия
Россия
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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
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