Pericentric inversion of the Y chromosome of infertile male

Arch Androl. 2000 Nov-Dec;45(3):181-5. doi: 10.1080/01485010050193959.

Abstract

The authors report a case with pericentric inversion of the Y chromosome associated with asthenonecrozoospermia. The conventional karyotype was 46, X, inv (Y) (p11q11). Polymerase chain reaction (PCR) analysis revealed the deletion of DYZ3, DYS139, and RBM1. Three-color fluorescent in situ hybridization (FISH) analysis of the sperm chromosomes showed normal ratio between X- and Y-bearing sperm. In this case, the frequencies of aneuploidy of the sperm are not significantly higher compared with those from the normal volunteers. Cytogenetic analysis is recommended when the patients with pericentric inversion of the Y chromosome are attending an infertility clinic.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Inversion*
  • Chromosome Mapping
  • Genetic Markers
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Oligospermia / genetics*
  • Polymerase Chain Reaction
  • Sperm Count
  • Sperm Motility
  • Spermatozoa / pathology*
  • X Chromosome
  • Y Chromosome*

Substances

  • Genetic Markers