17p11.2微缺失微重复:Smith-Magenis综合征和Potocki-Lupski综合征

17p11.2 microdeletion and microduplication:Smith-Magenis syndrome and Potocki-Lupsk syndrome

目的对本院进行微阵列比较基因组杂交(aCGH)检测结果进行回顾性分析。方法 2013年1月至2016年3月的5091份行aCGH检测的病例进行基因组拷贝数变异分析(CNV)。结果检测出3例Smith-Magenis综合征(SMS)、5例Potocki-Lupski综合征(PTLS);其中3例为产前诊断病例,1例为SMS,2例为PTLS。结论 aCGH检测能有效检出17p11.2微缺失微重复,有助于提高临床诊断率,减少漏诊,在产前诊断中应用aCGH能降低新生儿的出生缺陷。

Objective The results of array based comparative genomic hybridization（aCGH）in our hospital were retrospectively analyzed.Method Genomic copy number variation analysis（CNV）was performed in 5091 cases that were detected by aCGH from March 2016 to January 2013.Results 3 cases were detected Smith-Magenis syndrome（17p11.2 microdeletion）and 5 cases were detected Potocki-Lupski syndrome（17p11.2 microduplication）.1 case of Smith-Magenis syndrome and 2 cases of Potocki-Lupski syndrome were prenatal diagnosis cases.Conclusions aCGH is effectively to detect 17p11.2 microdeletion microduplication,it can help to improve the clinical diagnostic rate and reduce missed diagnosis.The application of aCGH in prenatal diagnosis can reduce the birth rate of children with disease.