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Updated: Apr 25, 2026
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
[Analysis of 22 patients with congenital cleft lip and palate using high-resolution chromosome microarray]
Tingying Lei1, Ying Zhang, Hongtao Wang
1Institute of Perinatology and Birth Health, Women and Children's Medical Center of Guangzhou, Guangzhou Medical University, Guangzhou, Guangdong 510623, P.R. China. canliao@hotmail.com.
Objective:
To assess the value of chromosome microarray analysis (CMA) for identifying the etiology of patients with congenital cleft lip and palate.
Methods:
Twenty-two patients with no identifiable chromosomal aberrations by conventional cytogenetic technique were selected. DNA was extracted and hybridized with Affymetrix CytoScan(TM) HD arrays following the manufacturer's protocol. The data were analyzed with a CHAS v2.0 software.
Results:
CMA analysis has identified submicroscopic copy number variants (CNVs) in all of the cases, which have ranged from 100 kb to 1.8 Mb. Potential pathogenic CNVs were identified in 5 patients (22.7%), which involved microdeletions and microduplications on 8p23.1, 10q22.2-q22.3, 6q26, 20p12.1 and 18q12.3. MYST4, MACROD2 and SOX7 genes are likely the causative genes.
Conclusion:
CMA is an effective method for identification of etiology in patients with cleft lip and palate. CMA should be provided for patients with cleft lip and palate but a normal karyotype. Especially for those with additional structural abnormalities, there is a high risk for submicroscopic chromosomal aberrations.
