ArticleScientific reports2021
Complex biology of constitutional ring chromosomes structure and (in)stability revealed by somatic cell reprogramming.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Whole-genome sequencing analysis of an atypical teratoid/rhabdoid tumor in a patient with Phelan-McDermid syndrome: a case report and systematic review.Brain tumor pathology · 2022Pooled it
- Review
- Fully T2T pedigree assemblies reveal genetic stability and epigenetic plasticity of human centromeres across inheritance and cell-fate transitions.bioRxiv : the preprint server for biology · 2026Article
- Embryoid bodies as a model system for exploring early human embryonic development.Journal of assisted reproduction and genetics · 2025Review
- Supernumerary ring chromosome 1 syndrome leads to fusion-driven B-cell acute lymphoblastic leukemia in monozygotic twins.Blood advances · 2025Article
- [Ring chromosome 21 syndrome: report of 2 cases].Revista medica del Instituto Mexicano del Seguro Social · 2025Article
- Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report.Molecular cytogenetics · 2024Article
- A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.Frontiers in genetics · 2024Article
- Effect of Recombinant Human Growth Hormone Treatment in a Patient with Short Stature Associated with the Ring Chromosome 17 Syndrome.Case reports in pediatrics · 2023Article
- The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes.HGG advances · 2022Review
- Clinical exome sequencing-Mistakes and caveats.Human mutation · 2022Review
- Article
- From contemplation to classification of chromosomal mosaicism in human preimplantation embryos.Journal of assisted reproduction and genetics · 2021Review
- Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing.Biomedicines · 2021Article
- Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model.Frontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Human ring chromosomes are often unstable during mitosis, and daughter cells can be partially or completely aneuploid. We studied the mitotic stability of four ring chromosomes, 8, 13, 18, and 22, in long-term cultures of skin fibroblasts and induced pluripotent stem cells (iPSCs) by GTG karyotyping and aCGH. Ring chromosome loss and secondary aberrations were observed in all fibroblast cultures except for r(18). We found monosomy, fragmentation, and translocation of indexed chromosomes. In iPSCs, aCGH revealed striking differences in mitotic stability both between iPSC lines with different rings and, in some cases, between cell lines with the same ring chromosome. We registered the spontaneous rescue of karyotype 46,XY,r(8) to 46,XY in all six iPSC lines through ring chromosome loss and intact homologue duplication with isoUPD(8)pat occurrence, as proven by SNP genotype distribution analysis. In iPSCs with other ring chromosomes, karyotype correction was not observed. Our results suggest that spontaneous correction of the karyotype with ring chromosomes in iPSCs is not universal and that pluripotency is compatible with a wide range of derivative karyotypes. We conclude that marked variability in the frequency of secondary rearrangements exists in both fibroblast and iPSC cultures, expanding the clinical significance of the constitutional ring chromosome.
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