Article: A Turner syndrome case associated with dic(Y;22).
2021 Volume 14, Issue 1, Page(s) 34
Abstract: ... 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 ... suggest that the separation of the dicentric chromosome at the junction resulted in a loss of chromosome Y ...
| 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. |
|---|---|
| Language | English |
| Publishing date | 2021-07-08 |
| Publishing country | England |
| Document type | Journal Article |
| ZDB-ID | 2420849-8 |
| ISSN | 1755-8166 |
| ISSN | 1755-8166 |
| DOI | 10.1186/s13039-021-00556-z |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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