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...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。展开更多
Objective To analyze the relationship between karyotypes and clinic features of patients with primary amenorrhea.Methods G banding was done for 340 patients with primary amenorrhea to facilitate individual chromosome ...Objective To analyze the relationship between karyotypes and clinic features of patients with primary amenorrhea.Methods G banding was done for 340 patients with primary amenorrhea to facilitate individual chromosome identification,and if specific staining for certain portions of the chromosome was necessary,C banding was used.The clinical data were recorded by physical examination and ultrasound scanning.Results Karyotype analysis of the 340 patients revealed that 180(52.94%) patients had normal female karyotypes and 160(47.06%) patients had abnormal karyotypes.The abnormal karyotypes included abnormal X chromosome(150 patients),mosaic X-Y chromosome(4 patients),abnormal autosome(5 patients),and X-autosome translocation(1 patient).The main clinical manifestations in patients with primary amenorrhea were primordial or absent uterus(95.9%),invisible secondary sex features(68.8%),little or absent ovary(62.6%),and short stature(30.0%).The incidence of short stature in patients with X chromosome aberration(46%,69/150) was significangly higher that in patients with 46,XX(9.44%,17/180) as well as 46,XY(6.67%,3/45;χ2=146.25,P=0.000).All primary amenorrhea patients with deletion or break-point at Xp11.1-11.4 were short statures.Conclusions One of the main reasons of primary amenorrhea is choromosome abnormality,especially heterosome abnormality.It implies the need to routinely screen chromosomal anomalies for such patients.There might be relationship between Xp11.1-11.4 integrity and height improvement.展开更多
文摘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。
文摘Objective To analyze the relationship between karyotypes and clinic features of patients with primary amenorrhea.Methods G banding was done for 340 patients with primary amenorrhea to facilitate individual chromosome identification,and if specific staining for certain portions of the chromosome was necessary,C banding was used.The clinical data were recorded by physical examination and ultrasound scanning.Results Karyotype analysis of the 340 patients revealed that 180(52.94%) patients had normal female karyotypes and 160(47.06%) patients had abnormal karyotypes.The abnormal karyotypes included abnormal X chromosome(150 patients),mosaic X-Y chromosome(4 patients),abnormal autosome(5 patients),and X-autosome translocation(1 patient).The main clinical manifestations in patients with primary amenorrhea were primordial or absent uterus(95.9%),invisible secondary sex features(68.8%),little or absent ovary(62.6%),and short stature(30.0%).The incidence of short stature in patients with X chromosome aberration(46%,69/150) was significangly higher that in patients with 46,XX(9.44%,17/180) as well as 46,XY(6.67%,3/45;χ2=146.25,P=0.000).All primary amenorrhea patients with deletion or break-point at Xp11.1-11.4 were short statures.Conclusions One of the main reasons of primary amenorrhea is choromosome abnormality,especially heterosome abnormality.It implies the need to routinely screen chromosomal anomalies for such patients.There might be relationship between Xp11.1-11.4 integrity and height improvement.
