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Updated: May 19, 2026
Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
[Array-based comparative genomic hybridization detection of copy number variations in a fetus with hypoplastic
Yan Wang1, Ding-yuan Ma, Yin-qiu Yang
1Nanjing Medical University, Nanjing, Jiangsu, People's Repulic of China.
Objective:
To detect the copy number variations (CNVs) of a fetus with hypoplastic left-heart syndrome, and to assess the value of array-based comparative genomic hybridization (array-CGH) for molecular cytogenetic diagnosis.
Methods:
The whole genome of a fetus with normal karyotype by G-banding was scanned and analyzed by array-CGH, and the CNVs was confirmed by multiplex ligation-dependent probe amplification (MLPA).
Results:
Two submicroscopic CNVs [del(11)(q24.1-ter)(121951443-134449216, -12.50 Mb),dup(15)(q26.3)(96889082-100215359, -3.33 Mb)] were identified and mapped by array-CGH. MLPA test confirmed both CNVs.
Conclusion:
Del (11) (q24.1-ter) may contribute to hypoplastic left-heart syndrome of the fetus. For its high-resolution and high-accuracy, array-CGH has provided a powerful tool for detection of genomic imbalance.
