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

T. V. Karamysheva, T. A. Gayner, E. G. Zakirova, N. B. Rubtsov

Результат исследования: Научные публикации в периодических изданияхстатья

Аннотация

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.

Язык оригиналаанглийский
Страницы (с-по)530-539
Число страниц10
ЖурналRussian Journal of Genetics
Том56
Номер выпуска5
DOI
СостояниеОпубликовано - 1 мая 2020

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