AI Article Synopsis
- The study discusses a rare case of Turner syndrome in a female with a complex karyotype involving both a normal and an abnormal chromosome structure.
- It highlights the confusion surrounding the development of this mosaicism, suggesting it may stem from the separation of a dicentric chromosome (dic(Y;22)) leading to the loss of the Y chromosome while retaining chromosome 22.
- The authors introduce a new mechanism called "pulled apart," which reflects instability in telomeric associations that could result in such unique chromosomal patterns.
Article Abstract
Background: Constitutional telomeric associations are very rare events and the mechanism underlying their development is not well understood.
Case Presentation: We here describe a female case of Turner syndrome with a 45,X,add(22)(p11.2)[25]/45,X[5]. We reconfirmed this karyotype by FISH analysis as 45,X,dic(Y;22)(p11.3;p11.2)[28]/45,X[2].ish dic(Y;22)(SRY+,DYZ1+). A possible mechanism underlying this mosaicism was a loss of dic(Y;22) followed by a monosomy rescue of chromosome 22. However, SNP microarray analysis revealed no loss of heterozygosity (LOH) in chromosome 22, although a mosaic pattern of LOH was clearly detectable at the pseudoautosomal regions of the sex chromosomes.
Conclusions: Our results suggest that the separation of the dicentric chromosome at the junction resulted in a loss of chromosome Y without a loss of chromosome 22, leading to this patient's unique mosaicism. Although telomere signals were not detected by FISH at the junction, it is likely that the original dic(Y;22) chromosome was generated by unstable telomeric associations. We propose a novel "pulled apart" mechanism as the process underlying this mosaicism.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8264959 | PMC |
| http://dx.doi.org/10.1186/s13039-021-00556-z | DOI Listing |
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