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.

Journal article

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.

Authors: Markie, D; Huson, S; Maher, E; Davies, A; Tomlinson, I

• Publication status: Published
• Journal: Human genetics
• Volume: 98
• Issue: 2
• Pages: 125-128
• Publication date: 1996-08-01
• DOI: 10.1007/s004390050173
• EISSN: 1432-1203
• ISSN: 0340-6717
• Language: English
• Keywords: Male; Chromosome Aberrations; Chromosomes, Artificial, Yeast; Genetic Markers; Humans; Peutz-Jeghers Syndrome; Chromosomes, Human, Pair 6; Adult; In Situ Hybridization, Fluorescence; Chromosome Mapping; Molecular Probes