临床误诊误治2017，Vol.30Issue(10)：76-80,5.DOI:10.3969/j.issn.1002-3429.2017.10.026
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
摘要
Abstract
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Key words
Sexual reversal/gonad/Cytogenetic analysis/Karyotype analysis/Gene copy number variations分类
医药卫生引用本文复制引用
欧明林,眭维国,曾君,龚蔚蔚,薛雯,荆环云,张若菡,陈洁晶,甘晴,戴勇..罕见性反转综合征三例微阵列基因组杂交检测结果分析[J].临床误诊误治,2017,30(10):76-80,5.基金项目
广西科技计划项目(桂科攻1598012-25) （桂科攻1598012-25）
