应用染色体微阵列技术检测2q37缺失综合征  

Prenatal Diagnosis of 2q37 Deletion Syndrome by Chromosomal Microarray Analysis

作　　者：黄华洁 兰菲菲[1] 彭海山[1] 黄伟伟[1] 卢建[1] 姚翠泽 HUANG Hua-jie;LAN Fei-fei;PENG Hai-shan(不详)

机构地区：[1]广东省妇幼保健院医学遗传中心,广东广州511442

出　　处：《中国产前诊断杂志（电子版）》2019年第4期67-69,共3页Chinese Journal of Prenatal Diagnosis(Electronic Version)

摘　　要：目的产前诊断1例胎儿2q37缺失,并结合病例和文献资料探讨2q37缺失综合征的临床表型及诊断方法。方法对羊水细胞进行染色体核型分析及基因组拷贝数变异分析。结果检测到胎儿2号染色体2q37.2-qter存在约6.2Mb缺失,该区域与“2q37缺失综合征”重叠。结论导致该综合征的缺失区域差异大,临床表型不完全外显,染色体微阵列分析(chromosomal microarray analysis,CMA)对该病诊断具有重要意义。Objective A fetus was diagnosed as 2q37 microdeletion.Combine the case and literature to explore the clinical phenotype and diagnosis.Method The karyotype analysis and genomic copy number variation analysis of amniotic fluid cells were performed.Results Approximately 6.2 Mb deletion on 2q37.2-qter which overlaps with“2q37 microdeletion syndrome”(OMIM600430)was detected.Conclusions The deletion area of the syndrome is various and the clinical phenotype is not completely explicit.Chromosomal Microarray Analysis(CMA)is of great significance for the diagnosis of this disease.

关 键 词：2q37缺失综合征 染色体微阵列 不完全外显 

分 类 号：R714.53[医药卫生—妇产科学;医药卫生—临床医学]