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Updated: Apr 20, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
[Analysis of copy number variations in 66 children with unexplained mental retardation/developmental delay using
Yifan Li1, Wenjuan Qiu, Jun Ye
1Department of Pediatric Endocrinology, Genetic and Metabolism, Shanghai Institute of Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, P. R. China. qiuwenjuanxh@163.com.
Objective:
To investigate clinically relevant copy number variations (CNV) in patients with unexplained mental retardation/developmental delay (MR/DD) through chromosomal microarray analysis (CMA).
Methods:
Sixty-six patients with unexplained MR/DD were analyzed with CMA. All identified CNVs were verified with database of genomic variations (DGV), DECIPHER, ISCA and the literature.
Results:
Nineteen clinically relevant CNVs were detected among the 16 individuals. The diagnostic yield for the MR/DD patients was 24.2%. The most common abnormality was Phelan-McDermid syndrome (3/16, 18.8%), which was followed by Prader-Willi syndrome/Angelman syndrome (2/16, 12.5%) and Wolf-Hirschhorn syndrome (2/16, 12.5%).
Conclusion:
CNVs are one of the most common causes for unexplained MR/DD. CMA can improve the detection rate of CNVs and confer genetic testing with greater sensitivity in elucidating the diagnosis for unexplained MR/DD.
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