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

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 a...

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Published inAmerican journal of medical genetics. Part A Vol. 158A; no. 8; pp. 1924 - 1933
Main Authors Repnikova, Elena A., Astbury, Caroline, Reshmi, Shalini C., Ramsey, Sarah N., Atkin, Joan F., Thrush, Devon Lamb, Mitchell, Anna L., Pyatt, Robert E., Reber, Kristina, Slavin, Thomas, Gastier-Foster, Julie M.
Format Journal Article
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.08.2012
Wiley-Liss
Wiley Subscription Services, Inc
Subjects
Adolescent
Adult
Biological and medical sciences
chromosomal abnormality
Chromosomes
Comparative Genomic Hybridization
Female
FISH
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Male
Medical genetics
Medical sciences
microarray
Mosaicism
Oligonucleotide Array Sequence Analysis
tissue-specific mosaicism
Human
chromosomal abnormality
Patient
Characterization
Tissue
microarray
Comparative genomic hybridization
Fluorescence in situ hybridization
Cytogenetics
FISH
Mosaicism
Molecular biology
tissue-specific mosaicism
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Summary: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.
Bibliography:ArticleID:AJMG35477
istex:5CA193F41CFEB6CEF2E0EE124FAA79BF01FAB371
Elena A. Repnikova, Caroline Astbury, and Shalini C. Reshmi contributed equally to this work.
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.
ark:/67375/WNG-66WBPT14-M
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.
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ISSN:1552-4825
1552-4833
1552-4833
DOI:10.1002/ajmg.a.35477