Comparative study of copy number variation sequencing and karyotype analysis in detection of chromosome abnormality / 西安交通大学学报(医学版)

ABSTRACT

Objective: To explore the clinical application of copy number variation sequencing (CNV-seq) and karyotype analysis in detection of chromosome abnormality. Methods: Chromosome of 42 patients was analyzed by karyotype analysis and CNV-seq. The advantages and limitations of the two methods were observed and compared. Results: We detected 7 cases of copy number variation by CNV-seq and the case detection rate was 16.67%. We detected cases of chromosomal anomalies by karyotype analysis, which included 6 cases of structural chromosome aberration and 2 cases of chromosome numerical abnormality. The case detection rate of karyotype analysis was 19.04%. Moreover, 4 cases of chromosome polymorphism were analyzed. Conclusion: CNV-seq can be applied in examining the abnormal chromosome number and structural aberrations, especially in providing clinically significant cytogenetic information that is difficult to be determined by karyotype analysis. It can also analyze chromosome microdeletion and microduplication syndrome with a chromosome resolution of 0.1 Mb. However, CNV-seq fails to identify balanced chromosomal translocation and inversion. Therefore, a combination of karyotype analysis and CNV-seq will provide accurate clinical diagnosis for patients with chromosome abnormality.