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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,X[15]。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。
OBJECTIVE: To analyze the karyotypes of a chimeric 45, X / 46, X, and Y (Y) patient using cytogenetics and molecular biology techniques. Methods: G-banding and C-banding were performed by conventional methods of chromosomal preparation. CEPX (DXZ1, Xp11.1-q11.1, Spectrum Green, Vysis) , Vysis probe and CEP18 (D18Z1, 18p11.1-q11.1, Spectrum Aqua, Vysis) were performed in situ hybridization (FISH) with the metaphase of the patient. The patients were also treated with PCR Y chromosome microdeletions detection. Results: According to the results of G-banding, C-banding, FISH and Y chromosome microdeletion, the karyotype of the patients was determined to be 46, X, Y (p11.3q12) X [15]. Yq11 spermatogenic microdeletion did not show the absence of this patient. CONCLUSIONS: Cytogenetics combined with FISH can diagnose complex chromosomal abnormalities and provide patients with proper genetic counseling and fertility guidance.