Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter----q11.1:) karyotype of an infertile male

J Med Genet. 1989 May;26(5):330-3. doi: 10.1136/jmg.26.5.330.


An infertile male patient with a 45,X peripheral blood karyotype and a 45,X/46,X,del(Y)(pter----q11.1:) mosaic skin fibroblast karyotype is described. Steroid sulphatase (STS) activity was normal. Recombinant DNA studies using Y chromosome specific probes suggest that almost the entire long arm of the Y chromosome is deleted.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Chromosome Deletion*
  • DNA Probes*
  • Humans
  • Infertility, Male / genetics*
  • Karyotyping
  • Male
  • Middle Aged
  • Mosaicism
  • Sex Chromosome Aberrations / genetics
  • Y Chromosome*


  • DNA Probes