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Updated: Jul 14, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics.

Sau W Cheung¹, Chad A Shaw, Daryl A Scott

¹Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030. scheung@bcm.tmc.edu

American Journal of Medical Genetics. Part A

|July 4, 2007

Summary

Array comparative genomic hybridization (aCGH) effectively detects chromosomal mosaicism, a cause of genetic syndromes, which is often missed by standard chromosome analysis. This advanced technique improves diagnostic yield for subtle genetic variations.

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Published on: January 11, 2017

Area of Science:

Genetics
Genomics
Molecular Biology

Background:

Somatic chromosomal mosaicism is linked to birth defects and genetic syndromes.
Conventional cytogenetic methods can miss subtle chromosomal abnormalities.
Accurate detection of copy number variations is crucial for genetic diagnosis.

Purpose of the Study:

To develop and validate a targeted BAC clone array for array comparative genomic hybridization (aCGH).
To enhance the detection of pathogenic copy number changes, including submicroscopic deletions and duplications.
To identify cases of chromosomal mosaicism missed by standard cytogenetic analysis.

Main Methods:

Development of a clinically validated, targeted BAC clone array platform.
Application of aCGH for high-sensitivity detection of DNA copy number variations.
Analysis of 2,585 patient samples submitted to a clinical laboratory.

Main Results:

Chromosomal mosaicism was detected in 12 out of 2,585 patient samples.
Ten of these mosaicism cases were missed by normal blood chromosome analysis.
aCGH demonstrated superior sensitivity in detecting mosaicism compared to conventional cytogenetics.

Conclusions:

Targeted aCGH is a powerful tool for detecting somatic chromosomal mosaicism.
aCGH can identify clinically significant genetic variations missed by routine chromosome analysis.
This method improves the diagnostic capability for genetic syndromes caused by mosaic alterations.