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.
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.
Markie
D
D
Paediatric Research Unit, UMDS, Guy's Hospital, London, UK.
Huson
S
S
Maher
E
E
Davies
A
A
Tomlinson
I
I
Bodmer
W F
WF
D000328:Adult; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast / Q000235:genetics; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D015335:Molecular Probes; D010580:Peutz-Jeghers Syndrome / Q000235:genetics*
D005819:Genetic Markers; D015335:Molecular Probes