Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
New Sight on Assessment of Clinical Value of Human Supernumerary Marker Chromosomes. / Karamysheva, T. V.; Gayner, T. A.; Zakirova, E. G. и др.
в: Russian Journal of Genetics, Том 56, № 5, 01.05.2020, стр. 530-539.Результаты исследований: Научные публикации в периодических изданиях › статья › Рецензирование
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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