13-三体综合征是由13号染色体完全或部分三体引起的一种严重且罕见的染色体疾病,发病率为1.68/10000,其中13q部分三体占1%,母源性13q部分三体及21q部分单体的胎儿更为罕见。报告1例孕妇因妊娠23+1周超声提示胎儿发育异常,于陆军军医大...13-三体综合征是由13号染色体完全或部分三体引起的一种严重且罕见的染色体疾病,发病率为1.68/10000,其中13q部分三体占1%,母源性13q部分三体及21q部分单体的胎儿更为罕见。报告1例孕妇因妊娠23+1周超声提示胎儿发育异常,于陆军军医大学第二附属医院进一步行产前诊断及遗传学分析。超声示胎儿主动脉瓣下室间隔缺损,双上腔静脉及椎体骨化异常;羊水核型分析结果为46,X?,+der(13)t(13;21)(q32;q21)dmat,-21,基因组拷贝数变异测序(copy number variation sequencing,CNV-seq)结果显示seq[hg19]dup(13)(q11q32.1)chr13:g.19440000_97680000dup和seq[hg19]del(21)(q11.2q21.1)chr21:g.15060000_22020000del;母亲染色体核型为46,XX,t(13;21)(q32;q21)。胎儿染色体异常由母亲染色体平衡易位导致,是胎儿心脏发育异常的主要原因。临床上综合应用染色体核型分析和CNV-seq可以明确染色体异常的来源和性质,为遗传咨询及生育指导提供依据。展开更多
For the past 20 years, numerous studies have been carried out on the application of equilibrium partitioning approach (EqPA) for the derivation of sediment quality guidelines (SQGs). However, for metals, few Equilibri...For the past 20 years, numerous studies have been carried out on the application of equilibrium partitioning approach (EqPA) for the derivation of sediment quality guidelines (SQGs). However, for metals, few Equilibrium-partitioning-based numerical SQGs have been developed or are currently available because of the confounding factors mediating the bioavailability of metals. A study was conducted at Dianchi Lake, which is a heavily eutrophicated lake on the Yunnan-Guizhou Plateau, China with the focus on the measurement of partitioning coefficient (Kp) and SQGs derivation and normalization to acid volatile sulfide (AVS), fine material, and organic carbon. Using new normalization methods, SQGs were formulated for seven metals including copper, zinc, lead, cadmium, chromium, mercury, and arsenic in Dianchi Lake. In Dianchi Lake sediments, the fine material contributed 25.4%-36.0% to the SQG values, with the largest contribution to the SQG value of mercury; AVS contributed 2.9%-75.0% to the SQG values, with the largest contribution to the SQG value of cadmium. This indicated that the fine material and the AVS were the most important controlling factors to the bioavailability of mercury and cadmium, respectively. The contribution of total organic carbon (TOC) to the SQG values of copper and lead was 3.8% and 7.1%, respectively, indicating that at relatively lower concentrations, the contribution of TOC was not significant. In addition to normalization methods, appropriate procedures for the application of EqPA including sample collection, storage, and analysis are also essential to improve the reliability of SQGs. The normalized Dianchi Lake SQGs were higher than most of the empirically based SQGs developed in North America, but lower than Hong Kong interim SQGs except for cadmium and arsenic. The differences could be attributed to the approaches used for derivation of SQGs and the water quality criteria adopted and the differences in the physical and chemical characteristics of the sediments.展开更多
文摘13-三体综合征是由13号染色体完全或部分三体引起的一种严重且罕见的染色体疾病,发病率为1.68/10000,其中13q部分三体占1%,母源性13q部分三体及21q部分单体的胎儿更为罕见。报告1例孕妇因妊娠23+1周超声提示胎儿发育异常,于陆军军医大学第二附属医院进一步行产前诊断及遗传学分析。超声示胎儿主动脉瓣下室间隔缺损,双上腔静脉及椎体骨化异常;羊水核型分析结果为46,X?,+der(13)t(13;21)(q32;q21)dmat,-21,基因组拷贝数变异测序(copy number variation sequencing,CNV-seq)结果显示seq[hg19]dup(13)(q11q32.1)chr13:g.19440000_97680000dup和seq[hg19]del(21)(q11.2q21.1)chr21:g.15060000_22020000del;母亲染色体核型为46,XX,t(13;21)(q32;q21)。胎儿染色体异常由母亲染色体平衡易位导致,是胎儿心脏发育异常的主要原因。临床上综合应用染色体核型分析和CNV-seq可以明确染色体异常的来源和性质,为遗传咨询及生育指导提供依据。
基金Project supported by the State Key Laboratory of Soil and Sustainable Agriculture, China (No. 5022505)the National Natural Science Foundation of China (No. 40771128)
文摘For the past 20 years, numerous studies have been carried out on the application of equilibrium partitioning approach (EqPA) for the derivation of sediment quality guidelines (SQGs). However, for metals, few Equilibrium-partitioning-based numerical SQGs have been developed or are currently available because of the confounding factors mediating the bioavailability of metals. A study was conducted at Dianchi Lake, which is a heavily eutrophicated lake on the Yunnan-Guizhou Plateau, China with the focus on the measurement of partitioning coefficient (Kp) and SQGs derivation and normalization to acid volatile sulfide (AVS), fine material, and organic carbon. Using new normalization methods, SQGs were formulated for seven metals including copper, zinc, lead, cadmium, chromium, mercury, and arsenic in Dianchi Lake. In Dianchi Lake sediments, the fine material contributed 25.4%-36.0% to the SQG values, with the largest contribution to the SQG value of mercury; AVS contributed 2.9%-75.0% to the SQG values, with the largest contribution to the SQG value of cadmium. This indicated that the fine material and the AVS were the most important controlling factors to the bioavailability of mercury and cadmium, respectively. The contribution of total organic carbon (TOC) to the SQG values of copper and lead was 3.8% and 7.1%, respectively, indicating that at relatively lower concentrations, the contribution of TOC was not significant. In addition to normalization methods, appropriate procedures for the application of EqPA including sample collection, storage, and analysis are also essential to improve the reliability of SQGs. The normalized Dianchi Lake SQGs were higher than most of the empirically based SQGs developed in North America, but lower than Hong Kong interim SQGs except for cadmium and arsenic. The differences could be attributed to the approaches used for derivation of SQGs and the water quality criteria adopted and the differences in the physical and chemical characteristics of the sediments.
