Spatial organization of chromosome territories in the interphase nucleus of trisomy 21 cells

Chromosoma. 2018 Jun;127(2):247-259. doi: 10.1007/s00412-017-0653-6. Epub 2017 Dec 14.


In the interphase cell nucleus, chromosomes adopt a conserved and non-random arrangement in subnuclear domains called chromosome territories (CTs). Whereas chromosome translocation can affect CT organization in tumor cell nuclei, little is known about how aneuploidies can impact CT organization. Here, we performed 3D-FISH on control and trisomic 21 nuclei to track the patterning of chromosome territories, focusing on the radial distribution of trisomic HSA21 as well as 11 disomic chromosomes. We have established an experimental design based on cultured chorionic villus cells which keep their original mesenchymal features including a characteristic ellipsoid nuclear morphology and a radial CT distribution that correlates with chromosome size. Our study suggests that in trisomy 21 nuclei, the extra HSA21 induces a shift of HSA1 and HSA3 CTs out toward a more peripheral position in nuclear space and a higher compaction of HSA1 and HSA17 CTs. We posit that the presence of a supernumerary chromosome 21 alters chromosome compaction and results in displacement of other chromosome territories from their usual nuclear position.

Keywords: 3D-FISH; Chromosome territory; Nuclear architecture; Radial arrangement; Trisomy 21.

MeSH terms

  • Amniocentesis
  • Aneuploidy
  • Cell Nucleus / metabolism*
  • Cell Nucleus / ultrastructure
  • Chorionic Villi / metabolism*
  • Chorionic Villi / ultrastructure
  • Chromatin / metabolism*
  • Chromatin / ultrastructure
  • Down Syndrome / genetics*
  • Down Syndrome / metabolism
  • Down Syndrome / pathology
  • Female
  • Fibroblasts / metabolism
  • Fibroblasts / ultrastructure
  • Humans
  • In Situ Hybridization, Fluorescence
  • Interphase
  • Karyotyping
  • Lymphocytes / metabolism
  • Lymphocytes / ultrastructure
  • Pregnancy
  • Primary Cell Culture
  • Translocation, Genetic*


  • Chromatin