【摘要】 目的应用细胞遗传学和分子生物学技术分析1例少弱精子患者的核型,确定其少弱精子的原因。方法应用实验室常规染色体标本制备方法进行G-显带和C-显带,并应用Yq12区DYZ1探针和Yp11.1-q11.1区DYZ3探针与病例的中期分裂相进行荧光原位杂交(fluorescence in situ hybridization,FISH),同时对患者进行了Y染色体微缺失的检测。结果结合G-显带、C-显带和FISH检测结果,确定该患者核型为46,XYY,dic(13,22)(p11.1;p11.1)。Yq11区生精基因微缺失检测未发现该患者存在缺失。结论细胞遗传学检测结合FISH可以明确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。更多还原

【Abstract】 Objective:In order to check the causation of the oligozoospermia,we analysised the chromosome of a patient by using cytogenetic and molecular biology techniques.Methods:Using G-banding,C-banding and fluorescence in situ hybridization(FISH)(DYZ1 in Yq12 zone,DYZ3 in Yp11.1-q11.1 zone) to detect the patient′s chromosome.At the same time,Y chromosome microdeletion detection was performed on the patient.Results:Through G-banding,C-banding and FISH,the patient′s karyotype is confirmed as 46,XYY,dic(13,22)(p11.1;p11.1).No deletion was detected in the Yq11 zone.Conclusions:Some complex chromosomal abnormalities can be detected by cytogenetic and FISH techniques exactly,which can provide accurate genetic and reproductive counseling to the patient.更多还原