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Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements†
Article first published online: 11 NOV 2005
Copyright © 2005 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 139A, Issue 2, pages 106–113, 1 December 2005
How to Cite
Sahoo, T., Shaw, C. A., Young, A. S., Whitehouse, N. L., Schroer, R. J., Stevenson, R. E. and Beaudet, A. L. (2005), Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements. Am. J. Med. Genet., 139A: 106–113. doi: 10.1002/ajmg.a.31000
- Issue published online: 21 NOV 2005
- Article first published online: 11 NOV 2005
- Manuscript Accepted: 14 SEP 2005
- Manuscript Received: 1 FEB 2005
- March of Dimes Birth Defects Foundation funding (to ALB). Grant Number: MOD 12-FY03-43
- NIH grants (to ALB). Grant Numbers: NIH HD37283, NIH HD24064
- National Association for Autism Research pilot research award (to TS). Grant Number: NAAR 704/TS/01-201-004-00-00
- Angelman syndrome;
- chromosome 15;
- comparative genomic hybridization;
- isodicentric 15;
- Prader–Willi syndrome
Genomic rearrangements of chromosome 15q11-q13 cause diverse phenotypes including autism, Prader–Willi syndrome (PWS), and Angelman syndrome (AS). This region is subject to genomic imprinting and characterized by complex combinations of low copy repeat elements. Prader–Willi and Angelman syndrome are caused primarily by 15q11-13 deletions of paternal and maternal origin, respectively. Autism is seen with maternal, but not paternal, interstitial duplications. Isodicentric 15q, most often of maternal origin, is associated with a complex phenotype often including autistic features. Limitations of conventional cytogenetic tests preclude a detailed analysis in most patients with 15q rearrangements. We have developed a microarray for comparative genomic hybridization utilizing 106 genomic clones from chromosome 15q to characterize this region. The array accurately localized all breakpoints associated with gains or losses on 15q. The results confirmed the location of the common breakpoints associated with interstitial deletions and duplications. The majority of idic(15q) chromosomes are comprised of symmetrical arms with four copies of the breakpoint 1 to breakpoint 5 region. Patients with less common breakpoints that are not distinguished by routine cytogenetic methods were more accurately characterized by array analysis. This microarray provides a detailed characterization for chromosomal abnormalities involving 15q11-q14 and is useful for more precise genotype–phenotype correlations for autism, PWS, AS, and idic(15) syndrome. © 2005 Wiley-Liss, Inc.