Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.
OBJECTIVE
To assess the yield of array-based comparative genomic hybridization.


METHODS
The results of array comparative genomic hybridization were collected on 1500 consecutive clinical cases sent to our laboratory for a variety of developmental problems. Confirmation fluorescence in situ hybridization of metaphase or interphase cells, depending on the aberration, was performed.


RESULTS
Of the 1500 cases, 134 (8.9%) showed an abnormality: 36 (2.4%) showed polymorphisms or familial variants, 14 (0.9%) showed alterations of unknown clinical significance, and 84 (5.6%) showed clinically relevant genomic alterations. These included subtelomeric deletions and unbalanced rearrangements, microdeletions and reciprocal duplications, rare abnormalities, and low-level trisomy mosaicism.


CONCLUSIONS
A targeted array detects a substantial proportion of abnormalities even in those patients who have already had extensive cytogenetic and/or fluorescence in situ hybridization testing. This study, although not a controlled ascertainment of subjects with specific selection criteria, accurately reflects the reality of clinical cytogenetic practice and provides an estimate of the cytogenetic abnormalities that can be identified with a targeted microarray in a diagnostic laboratory. Microarray analysis likely doubles the current yield of abnormal results detected by conventional cytogenetic analysis.
Shaffer
Lisa G
LG
Signature Genomic Laboratories, LLC, Spokane, Washington, USA. shaffer@signaturegenomics.com
Kashork
Catherine D
CD
Saleki
Reza
R
Rorem
Emily
E
Sundin
Kyle
K
Ballif
Blake C
BC
Bejjani
Bassem A
BA
D002648:Child; D002869:Chromosome Aberrations; D004247:DNA / Q000032:analysis; D014644:Genetic Variation; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D011446:Prospective Studies
D004247:DNA