1例罕见嵌合型Klinefelter综合征细胞及分子遗传学研究  

Cellular and molecular genetics of a rare chimeric Klinefelter syndrome

作　　者：林芳 景亚玲 唐丽萍 张传英[1] 赵咏梅[1] 刘泓键 刘晓芳[1,2] LIN Fang;JING Yaling;TANG Liping;ZHANG Chuanying;ZHAO Yongmei;LIU Hongjian;LIU Xiaofang(Prenatal Diagnosis Center of Suining Central Hospital,Suining,Sichuan 629000,China;Gynaecology and Obstetrics of Suining Central Hospital,Suining,Sichuan 629000,China;Andrology Department of Suining Central Hospital,Suining,Sichuan 629000,China)

机构地区：[1]遂宁市中心医院产前诊断中心,四川遂宁629000 [2]遂宁市中心医院妇产科,四川遂宁629000 [3]遂宁市中心医院男科,四川遂宁629000

出　　处：《中国优生与遗传杂志》2023年第6期1233-1236,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的观察1例嵌合型Klinefelter综合征患者的染色体及Y染色体AZF区域基因微缺失发生情况。方法通过外周血染色体核型分析观察患者染色体情况;采用PCR荧光探针法检测Y染色体上性别决定基因(SRY)及无精症因子(AZF)区域[AZFa(sY84,sY86)、AZFb(sY127,sY134)、AZFc(sY254,sY255)]微缺失状态。结果患者核型分析结果为47,XXY[38]/46,XX[3]/49,XXXXY[2]/48,XXYY[2]/48,XXXY[1]/46,XY[7],计数172个细胞,分析53个细胞,众数46[14]/47[153]/48[3]/49[2],妻子染色体结果正常;患者SRY基因检测结果为男性,Y染色体AZF区域未检测到微缺失发生。结论此例罕见嵌合型Klinefelter综合征患者染色体数目异常是导致其发生不育的最主要遗传因素。Objective To observe the chromosome abnormalities and microdeletions of the AZF region on the Y chromosome in a patient with chimera Klinefelter syndrome.Methods The karyotype analysis of peripheral blood chromosome was performed.The sex-determining gene(SRY)and microdeletions of azoospermia factor(AZF)region[AZFa(sY84,sY86),AZFb(sY127,sY134),AZFc(sY254,sY255)]on Y chromosome were detected by PCR fluorescence probes.Results By counting 172 cells and analyzing 53 cells,we found that his karyotype was 47,XXY[38]/46,XX[3]/49,XXXXY[2]/48,XXYY[2]/48,XXXY[1]/46,XY[7].The number of each karyotype was 46[14]/47[153]/48[3]/49[2]respectively.The result of SRY gene showed that the patient was male,and no microdeletion was detected in the AZF region of Y chromosome.Conclusion The formation of aneuploidies is the most important genetic factor leading to infertility in this patient with rare chimeric Klinefelter syndrome.

关 键 词：KLINEFELTER综合征 染色体核型 性别决定基因 无精症因子 

分 类 号：R698.2[医药卫生—泌尿科学]