ABSTRACT
Objective To explore the application value of chromosomal microarray analysis(CMA)technolo-gy 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 Childrenˊs 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 uncer-tain 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 kar-yotype 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.
ABSTRACT
For the previous century, the humans have created an unintended and unwanted problem of endocrine disruptors as a potential threat to our public health. By the name of industrialization, endocrine disruptors are smuggling in the everyday life of people today. Although there are much debate on the reality of their emerging health threat, it is no doubt that there are certain classes of compounds that have the potential to affect hormonal status adversely, leading to abnormal development, reproductive dysfunction, and some cancers. The classes of endocrine disruptors are extensively diverse and even more increasing, such as, polychlorinated biphenyls (PCBs), dioxins, dieldrin, bisphenol A and toxaphene. Although these endocrine disruptors have been prohibited or tightly regulated, many of them are still unrecognized and still used without knowing their potential threat to the biological world. Once they are released into the environment, they usually persist without degradation and even undergo bioaccumulation and bioconcentration in food chain. Comparing with the great concern over the public health, we do not have enough information for these issues. It is now clear that we need further extensive studies for the risk assessment and the protection of human and ecological health from the potential hazards of endocrine disruptors. This article introduces a breif overview of the current status of our knowledge and research on endocrine disruptors.