45,X/46,XY染色体嵌合是临床上比较少见的疾病,具有这种嵌合核型的患者可表现为男性或者女性外观,临床特征相似于特纳综合征(Turner syndrome,Turner综合征),但症状轻于Turner综合征。报告1例因不育就诊的男性表型患者,经G显带染色体核...45,X/46,XY染色体嵌合是临床上比较少见的疾病,具有这种嵌合核型的患者可表现为男性或者女性外观,临床特征相似于特纳综合征(Turner syndrome,Turner综合征),但症状轻于Turner综合征。报告1例因不育就诊的男性表型患者,经G显带染色体核型分析和全基因组拷贝数变异(copy number variation,CNV)技术分析患者外周血提取的DNA,染色体核型诊断为45,X/46,XY嵌合型,外周血淋巴细胞染色体核型共分析50个染色体核型,核型诊断结果为45,X[27]/46,XY[23],全基因组CNV检测结果为-(mosaic)(Y)(64%),Y染色体微缺失检测结果为未见明显异常。45,X/46,XY染色体嵌合型男性表型案例较少,本例患者身材矮小,生殖器畸形,是临床表型较轻的男性表型患者。展开更多
This study aimed to evaluate the efficacy, practicality and sustainability of a combined approach based on solvent extraction and biodegradation to remediate the soils contaminated with high levels of weathered petrol...This study aimed to evaluate the efficacy, practicality and sustainability of a combined approach based on solvent extraction and biodegradation to remediate the soils contaminated with high levels of weathered petroleum hydrocarbons. The soils used in this study were obtained from the Shengli Oilfield in China, which had a long history of contamination with high concentrations of petroleum hydrocarbons. The contaminated soils were washed using a composite organic solvent consisting of hexane and pentane （4：1, v/v） and then bioremediated in microcosms which were bioaugmentated with Bacillus subtilis FQ06 strains and/or rhamnolipid. The optimal solvent extraction conditions were determined as extraction for 20 min at 25 ~C with solvent-soil ratio of 6：1 （v/w）. On this basis, total petroleum hydrocarbon was decreased from 140000 to 14000 mg kg-1, which was further reduced to 〈 4000 mg kg-1 by subsequent bioremediatton for 132 d. Sustainability assessment of this integrated technology showed its good performance for both short- and long-term effectiveness. Overall the results encouraged its application for remediating contaminated sites especially with high concentration weathered hydrocarbons.展开更多
文摘45,X/46,XY染色体嵌合是临床上比较少见的疾病,具有这种嵌合核型的患者可表现为男性或者女性外观,临床特征相似于特纳综合征(Turner syndrome,Turner综合征),但症状轻于Turner综合征。报告1例因不育就诊的男性表型患者,经G显带染色体核型分析和全基因组拷贝数变异(copy number variation,CNV)技术分析患者外周血提取的DNA,染色体核型诊断为45,X/46,XY嵌合型,外周血淋巴细胞染色体核型共分析50个染色体核型,核型诊断结果为45,X[27]/46,XY[23],全基因组CNV检测结果为-(mosaic)(Y)(64%),Y染色体微缺失检测结果为未见明显异常。45,X/46,XY染色体嵌合型男性表型案例较少,本例患者身材矮小,生殖器畸形,是临床表型较轻的男性表型患者。
基金Supported by the National High Technology Research and Development Program (863 Program) of China (No. 2009AA063102)the Program for Changjiang Scholars and Innovative Research Team in University, China (No. IRT0936)+2 种基金the Tianjin Municipal Natural Science Foundation of China (No. 12JCQNJC05300)the China Postdoctoral Science Foundation (No. 2013M530641)the National Natural Science Foundation of China (No. 41201497)
文摘This study aimed to evaluate the efficacy, practicality and sustainability of a combined approach based on solvent extraction and biodegradation to remediate the soils contaminated with high levels of weathered petroleum hydrocarbons. The soils used in this study were obtained from the Shengli Oilfield in China, which had a long history of contamination with high concentrations of petroleum hydrocarbons. The contaminated soils were washed using a composite organic solvent consisting of hexane and pentane （4：1, v/v） and then bioremediated in microcosms which were bioaugmentated with Bacillus subtilis FQ06 strains and/or rhamnolipid. The optimal solvent extraction conditions were determined as extraction for 20 min at 25 ~C with solvent-soil ratio of 6：1 （v/w）. On this basis, total petroleum hydrocarbon was decreased from 140000 to 14000 mg kg-1, which was further reduced to 〈 4000 mg kg-1 by subsequent bioremediatton for 132 d. Sustainability assessment of this integrated technology showed its good performance for both short- and long-term effectiveness. Overall the results encouraged its application for remediating contaminated sites especially with high concentration weathered hydrocarbons.
