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.

中文翻译：

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人体多余标志物染色体临床评价新视野

摘要

尽管新的分子和分子细胞遗传学诊断方法迅速发展，1961年首次描述的小的数字标记染色体（sSMCs）仍然是诊断人类染色体病理学最困难的案例之一。本文考虑了sSMC的新方法，分析和描述方法，以及评估其可能的临床意义的现有问题。在分析人类染色体病理的分子细胞遗传学诊断领域，有改进和开发解决问题的新方法和方法的前景。