A pericentric inversion of chromosome six in a patient with Peutz-Jeghers' syndrome and the use of FISH to localise the breakpoints on a genetic map

Hum Genet. 1996 Aug;98(2):125-8. doi: 10.1007/s004390050173.


Karyotypic analysis in a patient with Peutz-Jeghers' syndrome demonstrated a pericentric inversion on chromosome 6. Further investigation was undertaken using fluorescence in situ hybridisation (FISH) with yeast artificial chromosome clones selected to contain genetic markers from chromosome 6, and a probe for the centromeric alphoid repeat array. This analysis located one inversion breakpoint within the alphoid array, in a 1-cM interval between D6S257 and D6S402, and the other in a 4-cM interval between D6S403 and D6S311. The oestrogen receptor gene locus (ESR) is excluded from the latter interval.

Publication types

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

MeSH terms

  • Adult
  • Chromosome Aberrations*
  • Chromosome Mapping
  • Chromosomes, Artificial, Yeast / genetics
  • Chromosomes, Human, Pair 6* / genetics
  • Genetic Markers
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Molecular Probes
  • Peutz-Jeghers Syndrome / genetics*


  • Genetic Markers
  • Molecular Probes