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Updated: May 3, 2026
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
[Array comparative genomic hybridization detection of a de novo 4q21.21-q22.1 deletion in a child with severe growth
1Center of Prenatal Diagnosis, Nanjing Maternal and Child Health Hospital Affiliated to Nanjing Medical University, Nanjing, Jiangsu 210004, P.R.China. njxzf@126.com; njfybjyhuping@163.com.
Objective:
To analyze a child with developmental delay, severe mental retardation, speech delay and muscular hypotonia.
Methods:
The karotypes of the child and her parents were analyzed with G-banding analysis. Their genome DNA was also analyzed with array comparative genomic hybridization (array-CGH).
Results:
No karyotypic abnormality was detected at cytogenetic level. However, array-CGH has identified a de novo 4q21.21-q22.1 deletion in the child, which has a size of 12.1 Mb.
Conclusion:
The de novo interstitial 4q21.21-q22.1 deletion probably underlies the main clinical manifestation in the child. Array-CGH is useful for diagnosing children with multiple congenital anomalies with unclear etiology.
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