Abstract:

Objective　To analyze the results of patients with chromosome abnormality by chromosomal microarray,and validate and depict patient's karyotype. Methods　Genotyping array was applied to assess in 9 patients with hypophrenia and deformity. The samples with karyotype analysis abnormality were determined. Comparison between karyotyping and microarray analysis was considered to validate the clinical utility of chromosomal microarray analysis. Results　Two Turner syndrome patients had completely concordant results from karyotype analysis and chromosomal microarray. Three patients showed abnormal karyotyping results (2 patients with excess trabant and 1 patients with chromosomal inversion) were detected negative with chromosomal microarray. Four patients with different size and location of deletions and duplication were also detected abnormal with chromosome microarray,but with significant deviation on location. Conclusions　Compared with chromosomal microarray analysis,karyotype analysis has low accuracy in diagnosing patients with hypophrenia and deformity. The abilities of locating and reckoning chromosomal deletion and duplication by chromosomal microarray are insufficient for clinical diagnostic purpose,but karyotype analysis is still efficient in detecting balanced changes in chromosome.

Key words: Karyotype analysis, Chromosomal microarray, Chromosome imbalance