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。
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 Ypll. 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 Yqll zone. Conclusions： Some complex chromosomal abnormalities can be detected by cytogenetic and FISH techniques exactly, which can provide accurate genetic and repro- ductive counseling to the patient.
出处
《中国优生与遗传杂志》
2010年第1期36-37,121,F0002,共4页
Chinese Journal of Birth Health & Heredity
关键词
XYY
罗伯逊易位
荧光原位杂交
微缺失
XYY
Robertsonian translocation
Fluorescence in situ hybridization
Microdeletion
