Format

Send to

Choose Destination
J Pediatr. 2006 Jul;149(1):98-102.

Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.

Author information

1
Signature Genomic Laboratories, LLC, Spokane, Washington, USA. shaffer@signaturegenomics.com

Erratum in

  • J Pediatr. 2006 Oct;149(4):585.

Abstract

OBJECTIVE:

To assess the yield of array-based comparative genomic hybridization.

STUDY DESIGN:

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.

PMID:
16860135
DOI:
10.1016/j.jpeds.2006.02.006
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center