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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.

Original publication




Journal article


Hum Genet

Publication Date





125 - 128


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