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New Sight on Assessment of Clinical Value of Human Supernumerary Marker Chromosomes. / Karamysheva, T. V.; Gayner, T. A.; Zakirova, E. G. et al.

In: Russian Journal of Genetics, Vol. 56, No. 5, 01.05.2020, p. 530-539.

Research output: Contribution to journal › Article › peer-review

Harvard

Karamysheva, TV, Gayner, TA, Zakirova, EG & Rubtsov, NB 2020, 'New Sight on Assessment of Clinical Value of Human Supernumerary Marker Chromosomes', Russian Journal of Genetics, vol. 56, no. 5, pp. 530-539. https://doi.org/10.1134/S1022795420040031

APA

Karamysheva, T. V., Gayner, T. A., Zakirova, E. G., & Rubtsov, N. B. (2020). New Sight on Assessment of Clinical Value of Human Supernumerary Marker Chromosomes. Russian Journal of Genetics, 56(5), 530-539. https://doi.org/10.1134/S1022795420040031

Vancouver

Karamysheva TV, Gayner TA, Zakirova EG, Rubtsov NB. New Sight on Assessment of Clinical Value of Human Supernumerary Marker Chromosomes. Russian Journal of Genetics. 2020 May 1;56(5):530-539. doi: 10.1134/S1022795420040031

Author

Karamysheva, T. V. ; Gayner, T. A. ; Zakirova, E. G. et al. / New Sight on Assessment of Clinical Value of Human Supernumerary Marker Chromosomes. In: Russian Journal of Genetics. 2020 ; Vol. 56, No. 5. pp. 530-539.

BibTeX

@article{76b49bf158eb4753a5faf500fb81463f,
title = "New Sight on Assessment of Clinical Value of Human Supernumerary Marker Chromosomes",
abstract = "Despite the rapid development of new methods of molecular and molecular cytogenetic diagnostics, the small supernumerary marker chromosomes (sSMCs), described for the first time in 1961, are still one of the most difficult cases in the diagnosis of human chromosomal pathologies. In this article, new approaches, methods of analysis and description of sSMC, as well as the existing problems of assessing their possible clinical significance are considered. There are the prospects of improving and developing new methods and approaches to solving problems in the field of molecular cytogenetic diagnosis of human chromosomal pathologies analyzed.",
keywords = "additional genomic elements, fluorescence in situ hybridization (FISH), G banding (GTG banding), metaphase chromosome microdissection, small supernumerary marker chromosomes (sSMCs), DNA PROBES, REGIONS, IN-SITU HYBRIDIZATION, FISH, CAT EYE SYNDROME, IDENTIFICATION",
author = "Karamysheva, {T. V.} and Gayner, {T. A.} and Zakirova, {E. G.} and Rubtsov, {N. B.}",
year = "2020",
month = may,
day = "1",
doi = "10.1134/S1022795420040031",
language = "English",
volume = "56",
pages = "530--539",
journal = "Russian Journal of Genetics",
issn = "1022-7954",
publisher = "PLEIADES PUBLISHING INC",
number = "5",

}

RIS

TY - JOUR

T1 - New Sight on Assessment of Clinical Value of Human Supernumerary Marker Chromosomes

AU - Karamysheva, T. V.

AU - Gayner, T. A.

AU - Zakirova, E. G.

AU - Rubtsov, N. B.

PY - 2020/5/1

Y1 - 2020/5/1

N2 - Despite the rapid development of new methods of molecular and molecular cytogenetic diagnostics, the small supernumerary marker chromosomes (sSMCs), described for the first time in 1961, are still one of the most difficult cases in the diagnosis of human chromosomal pathologies. In this article, new approaches, methods of analysis and description of sSMC, as well as the existing problems of assessing their possible clinical significance are considered. There are the prospects of improving and developing new methods and approaches to solving problems in the field of molecular cytogenetic diagnosis of human chromosomal pathologies analyzed.

AB - Despite the rapid development of new methods of molecular and molecular cytogenetic diagnostics, the small supernumerary marker chromosomes (sSMCs), described for the first time in 1961, are still one of the most difficult cases in the diagnosis of human chromosomal pathologies. In this article, new approaches, methods of analysis and description of sSMC, as well as the existing problems of assessing their possible clinical significance are considered. There are the prospects of improving and developing new methods and approaches to solving problems in the field of molecular cytogenetic diagnosis of human chromosomal pathologies analyzed.

KW - additional genomic elements

KW - fluorescence in situ hybridization (FISH)

KW - G banding (GTG banding)

KW - metaphase chromosome microdissection

KW - small supernumerary marker chromosomes (sSMCs)

KW - DNA PROBES

KW - REGIONS

KW - IN-SITU HYBRIDIZATION

KW - FISH

KW - CAT EYE SYNDROME

KW - IDENTIFICATION

UR - http://www.scopus.com/inward/record.url?scp=85085701600&partnerID=8YFLogxK

U2 - 10.1134/S1022795420040031

DO - 10.1134/S1022795420040031

M3 - Article

AN - SCOPUS:85085701600

VL - 56

SP - 530

EP - 539

JO - Russian Journal of Genetics

JF - Russian Journal of Genetics

SN - 1022-7954

IS - 5

ER -

ID: 24410608