Unbalanced Y;7 Translocation between Two Low-Similarity Sequences Leading to SRY -Positive 45,X Testicular Disorders of Sex Development

Erika Uehara, Atsushi Hattori, Hirohito Shima, Akira Ishiguro, Yu Abe, Tsutomu Ogata, Eishin Ogawa, Maki Fukami

Research output: Contribution to journalArticlepeer-review

Abstract

Unbalanced translocations of Y-chromosomal fragments harboring the sex-determining region Y gene (SRY) to the X chromosome or an autosome result in 46,XX and 45,X testicular disorders of sex development (DSD), respectively. Of these, Y;autosome translocation is an extremely rare condition. Here, we identified a 20-year-old man with a 45,X,t(Y;7)(q11.21;q35) karyotype, who exhibited unilateral cryptorchidism, small testis, intellectual disability, and various congenital anomalies. The fusion junction of the translocation was blunt, and the breakpoint-flanking regions shared only 50% similarity. These results indicate that Y;autosome translocations can occur between 2 low-similarity sequences, probably via nonhomologous end joining. Furthermore, translocations of a Ypterq11.21 fragment to 7q35 likely result in normal or only mildly impaired male-type sexual development, along with various clinical features of 7q deletion syndrome, although their effects on adult testicular function remain to be studied.

Original languageEnglish
Pages (from-to)115-120
Number of pages6
JournalCytogenetic and Genome Research
Volume158
Issue number3
DOIs
Publication statusPublished - 2019 Sep 1

Keywords

  • 7q Deletion
  • DSD
  • Nonhomologous end joining
  • Sex chromosome
  • Translocation

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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