Elena A. Repnikova, Caroline Astbury, and Shalini C. Reshmi contributed equally to this work.
Article first published online: 11 JUL 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 8, pages 1924–1933, August 2012
How to Cite
Repnikova, E. A., Astbury, C., Reshmi, S. C., Ramsey, S. N., Atkin, J. F., Thrush, D. L., Mitchell, A. L., Pyatt, R. E., Reber, K., Slavin, T. and Gastier-Foster, J. M. (2012), Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients. Am. J. Med. Genet., 158A: 1924–1933. doi: 10.1002/ajmg.a.35477
How to Cite this Article: Repnikova EA, Astbury C, Reshmi SC, Ramsey SN, Atkin JF, Thrush DL, Mitchell AL, Pyatt RE, Reber K, Slavin T, Gastier-Foster JM. 2012. Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients. Am J Med Genet Part A. 158A:1924–1933.
- Issue published online: 19 JUL 2012
- Article first published online: 11 JUL 2012
- Manuscript Accepted: 13 APR 2012
- Manuscript Received: 19 AUG 2011
- tissue-specific mosaicism;
- chromosomal abnormality;
The presence of more than one cell line in an individual may often be missed by classical cytogenetic analysis due to a low percentage of affected cells or analysis of cells from an unaffected or less affected germ layer. Array comparative genomic hybridization (aCGH) from whole blood or tissue is an important adjunct to standard karyotyping due to its ability to detect genomic imbalances that are below the resolution of karyotype analysis. We report results from three unrelated patients in whom aCGH revealed mosaicism not identified by peripheral blood chromosome analysis. This study further illustrates the important application of aCGH in detecting tissue-specific mosaicism, thereby leading to an improvement in the ability to provide a diagnosis for patients with normal chromosome analysis and dysmorphic features, congenital anomalies, and/or developmental delay. © 2012 Wiley Periodicals, Inc.