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

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

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

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.

Original languageEnglish
Pages (from-to)530-539
Number of pages10
JournalRussian Journal of Genetics
Volume56
Issue number5
DOIs
Publication statusPublished - 1 May 2020

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

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