45，X／46，XY嵌合体的临床表型及细胞遗传学分析  

Clinical and cytogenetic analysis of 45, X/46, XY individuals

作　　者：李磊磊[2] 武婧[1] 董媛[1] 朱海波[1] 李琳琳[1] 刘睿智[1] 

机构地区：[1]吉林大学白求恩第一医院生殖医学中心、产前诊断中心,长春130021 [2]吉林大学白求恩第一医院白求恩医学院细胞生物学系,长春130021

出　　处：《中华医学遗传学杂志》2013年第5期608-611,共4页Chinese Journal of Medical Genetics

基　　金：2011年国家人口计生委项目（2011GJKJS07）

摘　　要：目的探讨45，X／46，XY嵌合体的主要临床表现及细胞遗传学特点。方法制备外周血淋巴细胞染色体．行G冠带核型分析。用PCR检测成年男性患者的无精于凶子（azoospermia factor，AZF）区以及令部患者的Y染包体性别决定区（sex-determining region on Y chromosome，SRY）。对患者的临床表型和遗传学特点进行总结。结果共发现9例45，xj46，XY嵌合体，其中男性7例，女件2例。在上述7例男性中，有6例为原发性不育，其中无精子症5例，少精子症1例。微缺失检查发现3例存在AZF区缺失。1人表现为尿道下裂。2例女性均表现为典型的Turner综合征。9例患者SRY检测均为阳性。结论45，x／46，XY嵌合体的表型范围较广，临床表现与外周血核型嵌合比例无明确相关性。表型正常的男性患者有产生精子的能力。对不育的患者应进一步进行基因检测。Objective To analyze main clinical manifestations and cytogenetic characteristics of patients with a 45,X/46,XY karyolype. Methods Cbanding karyotype analysis was carried out. PCR was performed to detect azoospermia factor （AZF） microdclctio in adult male patients and sex-determining region on Y chromosome （SRY） gene in all patients. Clinical phenotype and genetic characteristics were summarized. Results Among the 9 individuals with 45,X/46,XY, there have been 7 males and 2 females. Six out of the 7 males have manifested primary infertility, which included 5 with azoospermia, 1 with oligospermia, and 1 with hypospadia. Three of the 6 infertile patients were found to have AZF microdelelions. Two females showed typical Turner syndrome. All of the 9 cases were SRY positive. Conclusion The 45,X/dB,XY karyotype may resuh in a range of phenoiypes. No correlation has been found hetween clinical manifestations and proportion of mosaicism cells for their peripheral blood karyotypes. As phenotypically normal male patients may produce sperm, infertile patients should undergo further examination at the molecular level.

关 键 词：45 X 46 XY 男性不育 性腺发育不良 

分 类 号：R698.2[医药卫生—泌尿科学]