A Turner syndrome case associated with dic(Y;22)

Rie Kawamura, Hidehito Inagaki, Midori Yamada, Fumihiko Suzuki, Yuki Naru, Hiroki Kurahashi

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1 Citation (Scopus)


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.

Original languageEnglish
Article number34
JournalMolecular Cytogenetics
Issue number1
Publication statusPublished - 12-2021

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Medicine
  • Molecular Biology
  • Genetics
  • Genetics(clinical)
  • Biochemistry, medical


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