1例嵌合型45,X/46,X,r(Y)患者的遗传学分析

目的:应用细胞遗传学和分子生物学技术分析1例嵌合型45,X/46,X,r(Y)患者的核型。方法:应用常规染色体标本制备方法进行G-显带和C-显带;并应用CEPX(DXZ1,Xp11.1-q11.1,Spectrum Green,Vysis)探针、LSI SRY(Yp11.3,Spectrum Orange,Vysis)探针和CEP18(D18Z1,18p11.1-q11.1,Spectrum Aqua,Vysis)与患者的中期分裂相进行荧光原位杂交(fluorescence in situ hybridization,FISH);同时应用PCR技术对患者进行Y染色体微缺失检测。结果:结合G-显带、C-显带、FISH检测结果和Y染色体微缺失的检测结果,确定该患者核型为46,X,r(Y)(p11.3q12)85]/45,X15]。Yq11区生精基因微缺失检测未显示该患者存在缺失。结论:细胞遗传学检测结合FISH可以诊断复杂的染色体异常,为患者提供正确的遗传咨询和生育指导。

Genetic Analysis of One Patient with Mosaic 45,X/46,Xr(Y)

Objective: To analyze the karyotype of one patient with mosaic 45,X/46Y,r(Y) by using cytogenetic and molecular biology techniques.Methods: The patient’s karyotype was determined by G-banding,C-banding and fluorescence in situ hybridization(FISH)(CEPX,LSI SRY,CEP18).Y chromosome microdeletion was detected by PCR technique.Results: The patient’s karyotype was confirmed as 46,X,r(Y)(p11.3q12)/45,X.No deletion was detected in the Yq11 zone.Conclusion: Some complex chromosomal abnormalities can be diagnosed by using both cytogenetics and FISH,which can provide accurate genetic and reproductive counseling to the patient.