2021年7月8日
A Turner syndrome case associated with dic(Y;22).
Molecular cytogenetics
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- 巻
- 14
- 号
- 1
- 開始ページ
- 34
- 終了ページ
- 34
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1186/s13039-021-00556-z
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.
- リンク情報
- ID情報
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- DOI : 10.1186/s13039-021-00556-z
- PubMed ID : 34238329
- PubMed Central 記事ID : PMC8264959