Human Genome Variation (Jul 2021)

The acrocentric part of der(Y)t(Y;acro)(q12;p1?2) contains D15Z1 sequences in the majority of cases

  • Sigrid Fuchs,
  • Jasmin Lisfeld,
  • Stefanie Kankel,
  • Luisa Person,
  • Thomas Liehr

DOI
https://doi.org/10.1038/s41439-021-00163-9
Journal volume & issue
Vol. 8, no. 1
pp. 1 – 3

Abstract

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Infertility: The origin of a Y-chromosome abnormality Researchers in Germany have clarified the origin of an abnormality in the Y-chromosome linked with infertility. Some chromosome regions are susceptible to variation, such as translocation with segments of other chromosomes. A team of researchers led by Thomas Liehr of the Jena University Hospital, investigated a Y-chromosome abnormality in seven men. Visual analysis of the chromosomes of all seven showed an aberration at the tip of the long arm of the chromosome, probably derived from an exchange with another chromosome. The researchers then used fluorescent probes to characterize the Y-chromosome. A general probe that binds the short arm of any acrocentric chromosome (chrs. 13, 14, 15, 21, 22) generated a signal. Further testing with probes for specific chromosomes revealed that the aberrant region is derived predominantly from the short arm of chromosome 15.