Context-based FISH localization of genomic rearrangements within chromosome 15q11.2q13 duplicons.

ABSTRACT:

Background

Segmental duplicons (SDs) predispose to an increased frequency of chromosomal rearrangements. These rearrangements can cause a diverse range of phenotypes due to haploinsufficiency, in cis positional effects or gene interruption. Genomic microarray analysis has revealed gene dosage changes adjacent to duplicons, but the high degree of similarity between duplicon sequences has confounded unequivocal assignment of chromosome breakpoints within these intervals. In this study, we localize rearrangements within duplicon-enriched regions of Angelman/Prader-Willi (AS/PWS) syndrome chromosomal deletions with fluorescence in situ hybridization (FISH).

Results

Breakage intervals in AS deletions were localized recursively with short, coordinate-defined, single copy (SC) and

SUBMITTER: Khan WA 

PROVIDER: S-EPMC3171312 | biostudies-literature | 2011 Aug

REPOSITORIES: biostudies-literature