Chromosomal Mosaicism Detection

Somatic Chromosomal Mosaicism and Chromosomal Instability

Unlike chromosome structural variation, cell-to-cell differences in chromosome content in the same individual are defined as chromosomal mosaicism, such as somatic chromosomal mosaicism (SCM) and chromosomal instability (CIN). CIN-related genomic behaviors (chromosome fragmentation, chromosome synthesis, chromosome synthesis) have been described, but the related mechanisms still need to be further explored. The more common intercellular chromosomal variation reported so far seems to be somatic mosaicism. SCM and chromosomal instability (CIN) may be the mechanism or pathogenic cascade elements of a wide range of diseases and mediate genetic diversity, prenatal development, and aging among individuals. Researchers can perform network/pathway (post-genome) analysis on the maintenance of genome stability, cell cycle regulation, mitotic chromosome segregation, and programmed cell death to understand the origin and mechanism of SCM/CIN. Research on the pathway from conventional chromosomal imbalance and/or copy number variation (CNV) to CIN/SCM is still ongoing. As a classic visual analysis method of cytogenetics, FISH can perform chromosome diagnosis under the background of histology. We provide mid-term FISH analysis solutions to help researchers better understand SCM and study CIN.

Current concepts in biology of chromosomal mosaicism: somatic-germline aneuploidization pathway.Fig 1. Current concepts in biology of chromosomal mosaicism: somatic-germline aneuploidization pathway. (Iourov I Y, et al. 2008)

Interphase FISH and ICS-MCB Assay

Molecular cytogenetics methods used to visualize interphase chromosomes cannot be completely replaced by single-cell whole-genome scanning techniques. Many chromosomal variations or CINs (chromosomal fragility, atypia, and interphase chromosomal breakage) cannot be discovered by single-cell whole-genome analysis. The classic method of chromosome diagnosis is to identify interphase chromosomal variation through molecular cytogenetics, and FISH-based methods (multi-probe interphase FISH) can be applied.

Interphase chromosome-specific multicolor banding (ICS-MCB) technology can analyze the morphological changes of chromosomes in metaphase of cell populations. The core lies in the application of DNA probes based on microdissection and fluorescent multicolor chromosome banding. This technology can observe the integrity of interphase chromosomes at any stage of the cell cycle, breaking the dilemma of analyzing SCM only through metaphase chromosomes.

Our platform provides solutions for analyzing interphase and metaphase chromosomal changes. We have an independent chromosome microdissection laboratory, rich professional knowledge, and a strong experimental team, we are confident to provide you with high-quality solutions.

Key points of chromosome mosaicism testing service. - Creative BioarrayFig 2. Key points of chromosome mosaicism testing.

Technology Applications

  • Chromosomal heterogeneity and somatic mosaicism in human diseases
  • Aging and chromosome mosaicism
  • Research on the mechanism of mosaic structure chromosome abnormalities (including submicroscopic copy number variation)
  • Research under tissue-specific chromosome mosaic line (skin, ovary)

Creative Bioarray provides interphase FISH technical service solutions. Our technology platform has a complete FISH professional team and equipment, and you will benefit from our expertise. If you are interested in our FISH service, please contact us for cooperation. We look forward to cooperating with you in the near future.


  1. Iourov I Y, Vorsanova S G, Yurov Y B. Chromosomal mosaicism goes global[J]. Molecular Cytogenetics, 2008, 1(1): 1-7.
  2. Iourov I Y, Vorsanova S G, Yurov Y B, et al. The cytogenomic "theory of everything": chromohelkosis may underlie chromosomal instability and mosaicism in disease and aging[J]. International journal of molecular sciences, 2020, 21(21): 8328.
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