罕见性反转综合征三例微阵列基因组杂交检测结果分析  

Results Analysis of Detection of Microarray Genomic Hybridization for 3 Patients with Rare Sex Reversal Syndromes

作　　者：欧明林[1] 曾君 龚蔚蔚 薛雯[1] 荆环云 张若菡 陈洁晶[1] 甘晴 戴勇 眭维国[1] 

机构地区：[1]解放军181医院中心实验室广西代谢性疾病研究重点实验室,广西壮族自治区桂林541002 [2]深圳市人民医院临床医学研究中心,广东深圳518020

出　　处：《临床误诊误治》2017年第10期76-80,共5页Clinical Misdiagnosis & Mistherapy

基　　金：广西科技计划项目(桂科攻1598012-25)

摘　　要：目的探讨微阵列基因组杂交检测在性反转综合征诊断中的价值及临床意义。方法收集2010—2015年来我院中心实验室进行遗传咨询患者的临床资料与外周血标本,采用G显带技术分析患者染色体核型,并对确诊为性反转综合征的患者进行微阵列基因组杂交检测,分析患者基因组拷贝数变异(copy number variations,CNVs)变化特点。结果同期在本实验室行遗传咨询者共9946例,其中3例(0.03%)诊断为性反转综合征。其中G显带染色体核型分析确诊46,XX男性性反转综合征2例,46,XY女性性反转综合征1例。微阵列基因组杂交检测发现3例均存在亚显微CNVs异常变化,其中1例46,XX男性性反转综合征患者性染色体Yp11.31存在扩增(SRY阳性);另2例均未检测到SRY基因(SRY阴性)。结论桂林地区遗传咨询人群中性反转综合征患者相对罕见,微阵列基因组杂交技术为CNVs检测提供了一种高效的方法,为性反转综合征病因学筛查及分类提供了新的途径。Objective To analyze values and clinical significances of detection of microarray genomic hybridization in diagnosis of sex reversal syndromes. Methods Clinical data and peripheral blood samples of patients with genetic counseling from 2010 to 2015 were collected. G-banding technique was used to analyze the chromosomal karyotypes. Detection of mi-croarray genomic hybridization was performed for patients confirmed sex reversal syndromes, and characteristics changes in pa-tients were analyzed. Results There were 9946 patients with genetic counseling at the same period, and 3 patients （0. 03%） were confirmed as having sex reversal syndromes. G band karyotype analysis showed that there were 2 male patients with 46, XX female sex reversal syndrome and 1patient with 46, XY sex reversal syndrome. Detection of microarray genomic hybridiza-tion showed that 3 patients had micro sub CNVs abnormal changes, which included that sex chromosome Yp11. 31 of 1 patient with 46, XX male sex reversal syndrome had amplification （SRY-positive）, while other 2 patients did not find SRY gene （ SRY-negative） . Conclusion The sex reversal syndrome in genetic counseling population in Guilin is relatively rare. Mi-croarray genomic hybridization provides an effective method for CNVs detection. It is a new way for the etiological diagnosis and classification of sex reversal syndromes.

关 键 词：性逆转 性腺 细胞遗传学分析 核型分析 基因拷贝数变异 

分 类 号：R596[医药卫生—内科学]