FISH技术在一例45,X/46,X,i（Xq）Turner综合征中的研究

目的应用荧光原位杂交技术（fluorescence in situ hybridization,FISH）分析一例45,X/46,X,i（Xq）嵌合体,并探讨其形成机理,临床表型与染色体核型的关系。方法通过染色体常规G显带技术,并联合FISH技术,选用X染色体着丝粒特异DNA探针（CSPX）和X染色体长臂全涂抹探针（Xq）,进一步确认异常染色体的来源。结果 G显带分析该患者染色体核型为45,X/46,X,i（Xq）,FISH技术证实了该异常染色体为Xq等臂染色体。结论 X短臂单体长臂三体型Turner综合征患者的临床表型与其染色体核型相关;在常规G显带的基础上,应用FISH技术可准确识别异常染色体,对明确诊断及后续治疗有指导意义。

FISH technology in the case of 45,X/46,X,i(Xq) Turner syndrome study

Objective:Fluorescence in situ hybridization analysis of one case of 45,X/46,X,i(Xq) mosaicism and to explore the mechanism of their formation,clinical phenotype and the reaction with chromosome.Methods: Conventional G banding chromosome,linking with FISH technique,used X chromosome specific centromeric DNA probe(CSPX) and the whole X chromosome painting probes(Xq),to make further confirmation for the source of abnormal chromosomes.Results: G-banding karyotype analysis of the patients was 45,X/46,X,i(Xq),FISH technique confirmed the abnormal chromosome Xq isochromosome.Conclusion: Monomer X short arm long arm trisomy Turner syndrome phenotype associated with chromosome;in conventional G-banding,based on the application of FISH technique can accurately identify the abnormal chromosomes,on the diagnosis and follow-up treatment guidance Significance.