How to cite this article: Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, Summers AM, Stankiewicz P, Chinault AC, Lupski JR, Beaudet AL, Sutton VR. 2007. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am J Med Genet Part A 143A:1679–1686.
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics†
Article first published online: 2 JUL 2007
Copyright © 2007 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 143A, Issue 15, pages 1679–1686, 1 August 2007
How to Cite
Cheung, S. W., Shaw, C. A., Scott, D. A., Patel, A., Sahoo, T., Bacino, C. A., Pursley, A., Li, J., Erickson, R., Gropman, A. L., Miller, D. T., Seashore, M. R., Summers, A. M., Stankiewicz, P., Chinault, A. C., Lupski, J. R., Beaudet, A. L. and Sutton, V. R. (2007), Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am. J. Med. Genet., 143A: 1679–1686. doi: 10.1002/ajmg.a.31740
- Issue published online: 24 JUL 2007
- Article first published online: 2 JUL 2007
- Manuscript Accepted: 28 JAN 2007
- Manuscript Received: 10 NOV 2006
- array comparative genomic hybridization;
- chromosomal mosaicism;
- Hypomelanosis of Ito;
- Pallister-Killian syndrome
Somatic chromosomal mosaicism is a well-established cause for birth defects, mental retardation, and, in some instances, specific genetic syndromes. We have developed a clinically validated, targeted BAC clone array as a platform for comparative genomic hybridization (aCGH) to enable detection of a wide range of pathologic copy number changes in DNA. It is designed to provide high sensitivity to detect well-characterized submicroscopic micro-deletion and duplication disorders while at the same time minimizing detection of variation of uncertain clinical significance. In the course of studying 2,585 samples submitted to our clinical laboratory, chromosomal mosaicism was detected in 12 patient samples; 10 of these cases were reported to have had a normal blood chromosome analysis. This enhanced ability of aCGH to detect mosaicism missed by routine chromosome analysis may be due to some combination of testing multiple cell lineages and/or failure of cytogenetically abnormal T lymphocytes to respond to mitogens. This suggests that aCGH may detect somatic chromosomal mosaicism that would be missed by conventional cytogenetics. © 2007 Wiley-Liss, Inc.