摘要
目的通过对一例呼吸暂停、发育欠佳的新生儿进行染色体核型分析及染色体微阵列芯片检测,探究临床病因与染色体变异的相关性,同时评估传统核型分析与微阵列芯片技术在临床中的应用价值。方法首先对患儿进行外周血染色体G显带核型分析,其次利用染色体微阵列芯片检测技术对变异片段进行精准定位,明确致病基因。结果患儿传统染色体核型分析结果为46,X,add(15)(p13),+mar,考虑此核型中存在性染色体异常及常染色体不平衡变异。微阵列芯片结果显示,患儿符合男性核型,且X染色体短臂、Y染色体长臂存在部分重复。结论该患儿的临床病因与基因拷贝数变异相关,X染色体短臂部分重复可能是导致该患儿性反转及大脑发育异常的主要因素。且患儿呼吸暂停,考虑是由大脑发育异常和新生儿肺炎两方面原因引起。传统核型分析具有一定的局限性,而微阵列芯片技术可精准识别变异片段,明确致病基因,颇有诊断意义。
Objective Through chromosomal karyotype analysis and chromosome microarray detection of a newborn with apnea and poor development,to explore the correlation between clinical etiology and chromosomal variation,and to evaluate the application value of traditional karyotype analysis and microarray chip technology in clinical practice.Methods Firstly,the peripheral blood chromosome G-banding karyotype analysis was performed in the children.Secondly,the chromosome microarray chip detection technology was used to accurately locate the variant fragments and identify the pathogenic genes.Results The result of traditional karyotype analysis of the child was 46,X,add(15)(p13),+mar,considering the existence of sex chromosome abnormalities and autosomal imbalance variation in this karyotype.The results of the microarray chip showed that the patient conformed to the male karyotype,and there were partial duplications in the short arm of the X chromosome and the long arm of the Y chromosome.Conclusions The clinical etiology of this child is related to gene copy number variation.The partial duplication of the short arm of the X chromosome may be the main factor leading to sexual reversal and abnormal brain development in this child.And the apnea of the child is considered to be caused by abnormal brain development and neonatal pneumonia.The trraditional karyotype analysis has certain limitations,while microarray chip technology can accurately identify variant fragments and clarify disease-causing genes,which is of great diagnostic significance.
作者
耿丹
杜荷香
陈帆
牟婷
包进
李清鲜
Geng Dan;Du Hexiang;Chen Fan;Mou Ting;Bao Jin;Li Qingxian(Taiyuan Kingmed Clinical Laboratory Co.,Ltd,Taiyuan Shanxi 030000,China.;Guangzhou Kingmed Clinical Laboratory Co.,Ltd,Guangzhou Guangdong,510000,China;Changchun Children's Hospital,Changchun Jilin 130000,China)
出处
《中华临床实验室管理电子杂志》
2021年第2期88-92,共5页
Chinese Journal of Clinical Laboratory Management(Electronic Edition）
