Research Article

Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients†‡

  1. Elena A. Repnikova1,
  2. Caroline Astbury1,2,*,
  3. Shalini C. Reshmi1,2,
  4. Sarah N. Ramsey1,
  5. Joan F. Atkin3,4,
  6. Devon Lamb Thrush1,5,
  7. Anna L. Mitchell6,7,
  8. Robert E. Pyatt1,2,
  9. Kristina Reber5,8,
  10. Thomas Slavin6,7,
  11. Julie M. Gastier-Foster1,2,5

Article first published online: 11 JUL 2012

DOI: 10.1002/ajmg.a.35477

Issue

American Journal of Medical Genetics Part A

American Journal of Medical Genetics Part A

Volume 158A, Issue 8, pages 1924–1933, August 2012

Additional Information

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

Author Information

  1. 1

    Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio

  2. 2

    Department of Pathology, The Ohio State University College of Medicine, Columbus, Ohio

  3. 3

    Division of Molecular and Human Genetics, Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio

  4. 4

    Section of Molecular and Human Genetics, Research Institute, Nationwide Children's Hospital, Columbus, Ohio

  5. 5

    Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio

  6. 6

    Department of Pediatrics, Rainbow Babies and Children's Hospital, Cleveland, Ohio

  7. 7

    Center for Human Genetics, University Hospitals Case Medical Center and Case Western Reserve University, Cleveland, Ohio

  8. 8

    Department of Neonatology, Nationwide Children's Hospital, Columbus, Ohio

*Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205.

  1. †

    Elena A. Repnikova, Caroline Astbury, and Shalini C. Reshmi contributed equally to this work.

  2. ‡

    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.

Publication History

  1. Issue published online: 19 JUL 2012
  2. Article first published online: 11 JUL 2012
  3. Manuscript Accepted: 13 APR 2012
  4. Manuscript Received: 19 AUG 2011

SEARCH

SEARCH BY CITATION

ARTICLE TOOLS

View Full Article (HTML) Get PDF (415K)

Keywords:

  • tissue-specific mosaicism;
  • microarray;
  • chromosomal abnormality;
  • FISH

Abstract

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.

View Full Article (HTML) Get PDF (415K)