Clinical analysis of 15 cases with abnormal chromosomal microarray analysis results at endocrinology clinic

Abstract

Objective To explore the application value of chromosomal microarray analysis (CMA) technology in children with abnormal development at the endocrine clinic, and to summarize the data of diagnosis and treatment. Methods A retrospective analysis of 15 children with abnormal development was performed at the endocrinology clinic of Guangzhou Women and Children′s Medical Center from January 2015 to December 2017.The whole genome CMA was applied according to the standard operation procedure of CytoScan 750 arrays of Affymetrix, USA.The results were analyzed by chromosome analysis suite (CHAS) software and related bioinformatics methods. Results The report on CMA showed that the genomes of 15 children had the pathogenic copy number variation (CNVs) or variants of uncertain significance.The chromosomal abnormalities were consistent with the clinical manifestations of all children.There were deletions in 14 cases and duplications in 3 cases.Among the 15 cases, loss of heterozygosity was found in 2 cases, uniparental disomy in 1 case, trisomy in 2 cases, Turner syndrome in 2 cases, Smith-Magenis syndrome in 1 case, and wolf Hirschhorn syndrome in 1 case.Only 2 of 15 children were diagnosed as chromosomal abnormalities by routine karyotype analysis. Conclusions The whole genome high resolution CMA can significantly improve the rate of diagnosis in children with abnormal development at endocrinology clinic, and is worthy of recommendation. Key words: Chromosomal microarray analysis; Copy number variations; Endocrinology; Abnormal development