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Updated: Dec 9, 2025
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
[Application of bionano optical mapping for the diagnosis of a 16p11.2-p12.2 microdeletion]
Peng Dai1, Chaofeng Zhu, Ganye Zhao
1Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxdtougao@163.com.
Objective:
To delineate chromosomal aberration caused by structural chromosomal abnormalities with bionano optical mapping.
Methods:
Chromosomal karyotyping, bionano optical mapping and copy number variation sequencing (CNV-seq) were used to delineate the chromosomal aberration carried by a patient.
Results:
The patient was found to have an anomalous chromosome 16 by karyotyping analysis, which was verified by bionano optical mapping and CNV-seq as loss of heterozygosity at 16p11.2-p12.2.
Conclusion:
Bionano optical mapping has provided a novel tool for the detection and diagnosis of structural chromosomal aberrations.
