FISH技术在一例45,X/46,X,i(Xq)Turner综合征中的研究

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

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。

Objective： Fluorescence in situ hybridization analysis of one ease of 45, X/46, X, i （Xq） mosaieism 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 eentromeric 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 isoehromosome. 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.