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 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.
Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, and The Ohio State University College of Medicine, Columbus, Ohio 43205, USA.
Elena A
EA
Repnikova
Caroline
C
Astbury
Shalini C
SC
Reshmi
Sarah N
SN
Ramsey
Joan F
JF
Atkin
Devon Lamb
DL
Thrush
Anna L
AL
Mitchell
Robert E
RE
Pyatt
Kristina
K
Reber
Thomas
T
Slavin
Julie M
JM
Gastier-Foster
D000293:Adolescent; D000328:Adult; D055028:Comparative Genomic Hybridization; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D020411:Oligonucleotide Array Sequence Analysis