特纳综合征患者额外小标记染色体的鉴定与分析  

Identification and analysis of small supernumerary marker chromosomes in Turner syndrome patients

作　　者：陈元元[1] 杨斌[1] 洪礼义[1] CHEN Yuanyuan;YANG Bin;HONG Liyi(Department of Laboratory Medicine,Children′s Hospital of Soochow University,Suzhou 215000,China)

机构地区：[1]苏州大学附属儿童医院检验科,苏州215000

出　　处：《山西医科大学学报》2024年第4期519-522,共4页Journal of Shanxi Medical University

摘　　要：目的探讨染色体核型分析联合荧光原位杂交(FISH)和染色体微阵列分析(CMA)技术对特纳综合征(TS)患者额外小标记染色体(sSMC)的鉴定与分析,并预测sSMC的染色体核型。方法选取2020年1月至2022年12月经外周血染色体核型分析确诊为TS的5例患儿,使用FISH和CMA技术对sSMC的来源与结构组成进行分析。结果FISH结果提示5例TS患者的sSMC均被鉴定出来,其中2例sSMC来源于Y染色体,3例来源于X染色体,并且所有患儿均存在染色体嵌合现象。CMA结果提示5例患儿均存在异常的染色体拷贝数变异,其中2例患儿存在Y染色体片段的扩增,2例患儿存在X染色体的片段缺失,1例患儿存在整条X染色体缺失。结合染色体核型分析、FISH和CMA结果,除1例染色体低比例嵌合者外,其他4例患儿均可预测出该sSMC的染色体核型。结论染色体核型分析、FISH和CMA技术联合可以准确预测出sSMC的核型,但在染色体嵌合水平较低时无法预测出sSMC的核型。Objective To investigate the identification and analysis of small supernumerary marker chromosomes(sSMC)by chromosomal karyotype analysis combined with fluorescence in situ hybridization(FISH)and chromosomal microarray analysis(CMA)in patients with Turner syndrome(TS),and predict the karyotypes of sSMC.Methods A total of five children diagnosed with TS by chromosomal karyotype analysis from January 2020 to December 2022 were selected.FISH and CMA were used to analyze the origin and structural composition of sSMC.Results FISH results indicated that the origin of sSMC was identified in all 5 patients with TS,two from Y chromosome and three from X chromosome,and all of them were chromosomal mosaicism.CMA results indicated that all five children had abnormal copy number variation,among which two children had amplification of Y chromosome fragments,two children had deletion of X chromosome fragments,and one child had deletion of entire X chromosome.According to the results of chromosomal karyotype analysis,FISH and CMA,the chromosomal karyotypes of sSMC were successfully predicted in 4 of 5 patients,except one case of low level of chromosome mosaicism.Conclusion The combination of chromosomal karyotype analysis,FISH and CMA can accurately predict the karyotypes of sSMC,but it cannot be predicted when the level of chromosome mosaicism is very low.

关 键 词：特纳综合征 荧光原位杂交 染色体微阵列分析 染色体核型分析 额外小标记染色体 

分 类 号：R711.75[医药卫生—妇产科学]