应用荧光原位杂交技术诊断嵌合型环状X染色体Turner综合征1例

A case of Turner syndrome with mosaic ring X chromosome was diagnosed by Fluorescence in situ Hybridization

目的 报道应用染色体G显带和荧光原位杂交技术,对1例嵌合型环状X染色体进行细胞遗传学分析,探讨环状X染色体的临床表现和形成机制。方法 应用染色体G显带技术进行染色体核型分析,并通过荧光原位杂交技术确认环状染色体的来源。结果 经患儿外周血染色体核型分析,结果显示为mos 46,X,r(X)[72]/45,X[34]/46,X,r(X)(p22q26)[4]。经荧光原位杂交技术分析,结果显示为nuc ish(DYZ3-)r(x)(DXZ1+)。结论 Tuner综合征与环状X染色体相关,矮小症患儿应高度警惕X染色体异常。

Objective To report a case of Turner syndrome with mosaic ring X chromosome wasdiagnosed by chromosome G banding and fluorescence in situ Hybridization(FISH),and explored theclinical manifestations and formation mechanism of ring X chromosome.Methods Chromosome karyotypewas analyzed by G-banding technique,and the origin of ring X chromosomes was confirmed by FISH.Results Karyotype analysis of peripheral blood showed mos 46,X,r(X)[72]/45,X[34]/46,X,r(X)(p22q26)[4].FISH test showed nuc ish(DYZ3-)r(x)(DXZ1+).Conclusion Tuner syndrome isassociated with ring X chromosome,and children with short stature should be highly alert for Xchromosome abnormalities.