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Updated: Mar 20, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
[Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 14q deletion]
Hongdan Wang1, Dong Wu, Litao Qin
1People's Hospital of Zhengzhou University, Henan Provincial People's Hospital, Medical Genetic Institute of Henan Province, Zhengzhou, Henan 450003, China. wanghongdan5495@163.com.
Objective:
To analyze a child with mental retardation, growth retardation and language development disorders.
Methods:
Conventional G-banding analysis was performed on chromosomes cultivated from peripheral blood samples derived from the child and her parents. Array-comparative genomic hybridization (aCGH) was performed to detect minor structural chromosomal abnormalities, and the result was confirmed by short tandem repeats (STR) analysis.
Results:
For the child and her parents, no karyotypic abnormality was detected. However, aCGH analysis has identified a 14q22.1 deletion in the child. The microdeletion, with a size of 2.9 Mb was confirmed by STR analysis.
Conclusion:
The 2.9 Mb chromosomal microdeletion probably underlies the mental retardation, growth retardation and language development disorders in the child.
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