PMID- 21824424
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20111110
LR  - 20231104
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 4
IP  - 1
DP  - 2011 Aug 8
TI  - Context-based FISH localization of genomic rearrangements within chromosome 
      15q11.2q13 duplicons.
PG  - 15
LID - 10.1186/1755-8166-4-15 [doi]
AB  - 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 low copy (LC) genomic FISH probes. These 
      probes were initially coincident with duplicons and regions of previously 
      reported breakage in AS/PWS. Subsequently, probes developed from adjacent genomic 
      intervals more precisely delineated deletion breakage intervals involving genes, 
      pseudogenes and duplicons in 15q11.2q13. The observed variability in the deletion 
      boundaries within previously described Class I and Class II deletion AS samples 
      is related to the local genomic architecture in this chromosomal region. 
      CONCLUSIONS: Chromosome 15 abnormalities associated with SDs were precisely 
      delineated at a resolution equivalent to genomic Southern analysis. This 
      context-dependent approach can define the boundaries of chromosome rearrangements 
      for other genomic disorders associated with SDs.
FAU - Khan, Wahab A
AU  - Khan WA
AD  - Department of Biochemistry, University of Western Ontario, Laboratories of Genome 
      Bioinformatics and Genomic Disorders, 1151 Richmond Street, London, ON, Canada. 
      progan@uwo.ca.
FAU - Knoll, Joan Hm
AU  - Knoll JH
FAU - Rogan, Peter K
AU  - Rogan PK
LA  - eng
PT  - Journal Article
DEP - 20110808
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC3171312
EDAT- 2011/08/10 06:00
MHDA- 2011/08/10 06:01
PMCR- 2011/08/08
CRDT- 2011/08/10 06:00
PHST- 2011/04/18 00:00 [received]
PHST- 2011/08/08 00:00 [accepted]
PHST- 2011/08/10 06:00 [entrez]
PHST- 2011/08/10 06:00 [pubmed]
PHST- 2011/08/10 06:01 [medline]
PHST- 2011/08/08 00:00 [pmc-release]
AID - 1755-8166-4-15 [pii]
AID - 10.1186/1755-8166-4-15 [doi]
PST - epublish
SO  - Mol Cytogenet. 2011 Aug 8;4(1):15. doi: 10.1186/1755-8166-4-15.