一例SRY阳性的46,XX男性综合征患者临床及细胞遗传学研究  

Clinical Molecular and cytogenetic studis one case of SRY positive and 46,XX Male Syndrome

作　　者：阙婷 李东明 李旺 林飞 徐玉琪 韦芳璐 刘天盛 欧珊 

机构地区：[1]广西壮族自治区妇产医院遗传代谢中心实验室,南宁530003

出　　处：《中国优生与遗传杂志》2014年第11期85-86,141,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨SRY阳性的46,XX男性综合征患者的临床及细胞遗传学研究。方法针对1例SRY阳性的46,XX男性综合征患者,应用多重PCR及染色体技术进行SRY、Y染色体微缺失等细胞遗传学检测。结果通过PCR扩增SRY、Y染色体微缺失发现患者SRY基因阳性,且Y染色体微缺失AZF区域AZFa、AZFb、AZFc、AZFd均缺失。染色体核型为46,XX。性激素检测示高促性腺激素性腺功能不全。结论对性发育异常的患者进行染色体核型分析和SRY基因检测,有利于了解该类患者的遗传学病因,为明确诊断和治疗提供科学依据。Objective：Try to explore the clinical,molecular and cytogeneic features of 46,XX（SRY positive）male sysdrome. Method：For the one case of SRY positive 46,XX male syndrome were analyzed retrospectively.using multiplex PCR and chromosome were SRY,Y chromosome microdeletion and cytogenetic detection. Resulst：By PCR amplification SRY,Y chromosome microdeletion was found SRY gene positive male patients,and Y chromosome microdeletion of AZF region of AZFa,AZFb,AZFc,AZFd were presenced.The karyotype of 46,XX.The karyotype of 46,XX. Sex hormone detection show high gonadotropin gonadal dysfunction. Conclusion：chromosome karyotyping and detection of the SRY gene for patients with abnormal sex development can give us and insight into genetic pathogenesis and provide us with scientific evidence for the diagnosis and treatment of condition.

关 键 词：46 XX男性综合征 SRY基因 性反转 

分 类 号：R596[医药卫生—内科学]