A deletion map of the human Y chromosome based on DNA hybridization

Am J Hum Genet. 1986 Feb;38(2):109-24.


The genomes of 27 individuals (19 XX males, two XX hermaphrodites, and six persons with microscopically detectable anomalies of the Y chromosome) were analyzed by hybridization for the presence or absence of 23 Y-specific DNA restriction fragments. Y-specific DNA was detected in 12 of the XX males and in all six individuals with microscopic anomalies. The results are consistent with each of these individuals carrying a single contiguous portion of the Y chromosome; that is, the results suggest a deletion map of the Y chromosome, in which each of the 23 Y-specific restriction fragments tested can be assigned to one of seven intervals. We have established the polarity of this map with respect to the long and short arms of the Y chromosome. On the short arm, there is a large cluster of sequences homologous to the X chromosome. The testis determinant(s) map to one of the intervals on the short arm.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosome Mapping*
  • DNA / genetics
  • DNA Restriction Enzymes
  • Disorders of Sex Development / genetics
  • Female
  • Genetic Markers
  • Humans
  • Male
  • Nucleic Acid Hybridization
  • Sex Chromosome Aberrations / genetics
  • Y Chromosome*


  • Genetic Markers
  • DNA
  • DNA Restriction Enzymes