Characterization of a (Y;4) translocation by DNA hybridization

Hum Genet. 1988 Apr;78(4):377-81. doi: 10.1007/BF00291741.

Abstract

A phenotypically normal male with azoospermia was found to have a translocation between the short arm of the Y chromosome and the distal long arm of a chromosome 4. By cytogenetic analysis it could not be determined whether the translocation was reciprocal, nor whether it was balanced. In situ DNA hybridization with two pseudoautosomal and one Y-specific probe demonstrated that the breakpoint was on distal Yp and that there was Y chromosome material on 4q. Thus the translocation was reciprocal and could be characterized as t(Y;4)(pll;q32). There was no evidence for loss of Y-DNA sequences as judged by Southern blotting with Y-DNA probes. Thus the translocation may be balanced. We conclude that DNA hybridization can be used to refine considerably the cytogenetic analysis of such translocations.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Chromosomes, Human, Pair 4 / ultrastructure*
  • Humans
  • Infertility, Male / genetics
  • Male
  • Nucleic Acid Hybridization
  • Sex Chromosome Aberrations / complications
  • Sex Chromosome Aberrations / genetics*
  • Translocation, Genetic*
  • Y Chromosome / ultrastructure*