A PERICENTRIC-INVERSION OF CHROMOSOME-6 IN A PATIENT WITH PEUTZ-JEGHERS SYNDROME AND THE USE OF FISH TO LOCALIZE THE BREAKPOINTS ON A GENETIC-MAP

Authors
MARKIE D HUSON S MAHER E DAVIES A TOMLINSON I BODMER WF
Citation
D. Markie et al., A PERICENTRIC-INVERSION OF CHROMOSOME-6 IN A PATIENT WITH PEUTZ-JEGHERS SYNDROME AND THE USE OF FISH TO LOCALIZE THE BREAKPOINTS ON A GENETIC-MAP, Human genetics, 98(2), 1996, pp. 125-128
Citations number
11
Categorie Soggetti
Genetics & Heredity
Journal title
Human genetics → ACNP
ISSN journal
03406717
Volume
98
Issue
2
Year of publication
1996
Pages
125 - 128
Database
ISI
SICI code
0340-6717(1996)98:2<125:APOCIA>2.0.ZU;2-G
Abstract
Karyotypic analysis in a patient with Peutz-Jeghers' syndrome demonstr ated a pericentric inversion on chromosome 6. Further investigation wa s undertaken using fluorescence in situ hybridisation (FISH) with yeas t artificial chromosome clones selected to contain genetic markers fro m chromosome 6, and a probe for the centromeric alphoid repeat array. This analysis located one inversion breakpoint within the alphoid arra y, 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 loc us (ESR) is excluded from the latter interval.