PCR detection of distal Yp sequences in an XX true hermaphrodite

Am J Med Genet. 1991 Oct 1;41(1):112-4. doi: 10.1002/ajmg.1320410127.


An XX true hermaphrodite was examined for the presence of Y-specific sequences using Southern-blotting and polymerase chain reaction (PCR) techniques. Of 25 loci examined, only two, the proximal border of the pseudoautosomal region (PABY) and the sex determining region of the Y chromosome (SRY), were detected. A crossing over event in paternal meiosis, proximal to the SRY locus but distal to the zinc finger protein (ZFY) locus, presumably transferred to two loci to the X chromosome.

Publication types

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

MeSH terms

  • Adolescent
  • Amino Acid Sequence
  • Blotting, Southern
  • Crossing Over, Genetic / genetics*
  • Disorders of Sex Development / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Oligodeoxyribonucleotides / genetics
  • Polymerase Chain Reaction
  • Sex Determination Analysis
  • X Chromosome*
  • Y Chromosome*


  • Oligodeoxyribonucleotides