Prenatal diagnosis of partial monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) with alobar holoprosencephaly and premaxillary agenesis

A prenatal diagnosis of partial monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) in a fetus with alobar holoprosencephaly (HPE) and premaxillary agenesis (PMA) but without the classical Down syndrome phenotype is reported. A 27-year-old primigravida woman was referred for genetic counselling at 21 weeks' gestation due to sonographic findings of craniofacial abnormalities. Level II ultrasonograms manifested alobar HPE and median orofacial cleft. Cytogenetic analysis and fluorescence in situ hybridization (FISH) on cells obtained from amniocentesis revealed partial monosomy 18p and a cryptic duplication of 21q,46,XY,der(18)t(18;21)(p11.2;q22.3), resulting from a maternal t(18;21) reciprocal translocation. The breakpoints were ascertained by molecular genetic analysis. The pregnancy was terminated. Autopsy showed alobar HPE with PMA, pituitary dysplasia, clinodactyly and classical 18p deletion phenotype but without the presence of major typical phenotypic features of Down syndrome. The phenotype of this antenatally diagnosed case is compared with those observed in six previously reported cases with monosomy 18p due to 18;21 translocation. The present study is the first report of concomitant deletion of HPE critical region of chromosome 18p11.3 and cryptic duplication of a small segment of distal chromosome 21q22.3 outside Down syndrome critical region. The present study shows that cytogenetic analyses are important in detecting chromosomal aberrations in pregnancies with prenatally detected craniofacial abnormalities, and adjunctive molecular investigations are useful in elucidating the genetic pathogenesis of dysmorphism. Copyright © 2001 John Wiley & Sons, Ltd.     

南京市城市生活垃圾分类收集问卷调查

围绕南京市城市生活垃圾分类收集的问卷调查展开，揭示了南京市生活垃圾收集开展的现状，分析了其间存在的问题及成因，提出了相应的改进意见和解决办法，为生活垃圾分类收集在全国的推广提供了依据。     

柯树背岩体铀金成矿远景分析

本文在研究柯树背岩体矿物岩石学特征基础上 ,通过对该岩体的铀金成矿元素丰度、铀金矿化类型、铀金矿石物质成分及成矿阶段的划分、矿脉的铀金含量及其相关关系、围岩蚀变及原生晕特点、铀金矿化控制因素的详细研究 ,从岩体的放射性地质地球化学特点、岩体蚀变及剥蚀强度、岩石化学及稀土元素地球化学、矿脉向深部的变化趋势等几个方面分析了该岩体的铀金成矿远景及今后找矿工作的意见 ,指出该岩体西体南部断续出现的柯树背—隘高断裂上盘 1km范围与下寮—大坑里断裂夹持区为铀金成矿远景区。     

环境监测数据的随机分析

本文以大气污染监测数据的随机分析为主,阐述了如何根据统计学理论,对大量已有的环境监测数据进行随机分析,以便充分利用环境数据库资源,改善环境监测管理工作。     

改善工艺提高钻井废水COD的达标率

本文重点介绍了完善油气勘探防污土建结构的办法,结果表明:完善后的结构能提高钻井废水COD的达标率。同时,处理水的SS,pH和色度等指标的达标率也可提高。     

克山病病区低硒粮喂养的豚鼠红细胞内Na~+浓度变化的研究

豚鼠分别喂以克山病病区粮(低硒)和非病区粮(硒含量正常),借助合成的D_Y(PPP)_2~(-7)位移试剂用XL-400NMR谱仪直接测试完整红细胞内Na~+的NMR谱,并定量计算细胞内Na~+浓度,发现低硒的病区粮饲养的豚鼠红细胞内Na~+浓度显著高于正常组;病区粮喂养的豚鼠红细胞在老化条件下细胞溶血比非病区严重。     

城市生活垃圾堆肥动态工艺 DANO 的研究

研究了DANO式动态堆肥工艺处理我国城市生活垃圾的主要参数。结果表明,对有机物含量为50％～60％的堆料,初步稳定化时间为3～4日,耗氧速率每分钟为0.1％～0.2％,温度高于50℃;达到完全稳定化,所需时间为14～15日,具体数值与堆料特性有关。有机物含量低于40％的堆料,则不宜以本工艺处理。     

土壤中砷的原子荧光法测定

将土壤粉末均匀稳定地悬浮于0.15％～0.2％琼脂溶胶中,采用悬浮样品直接进样,氢化物发生—非色散原子荧光法,测定其砷含量。以柠檬酸—NaOH缓冲液控制试样pH4.7,测定As~(3+);以HCl、KI和抗坏血酸还原As~(5+)为As~(3+),测定总砷量;用差减法求得As~(5+)含量。方法应用于测定不同类型土壤时,相对标准偏差为1％～6％,回收率为85％～106％。     

三向风标数据采集及处理系统的研究

本文报告三向风标数据采集及处理系统的研究成果。概述系统的基本工作原理及其基本结构组成。对风速数据处理方法,工作软件的编程技术以及数据处理结果报表的内容作简要说明。      

A.Tessier逐级提取程序应用于土镉形态研究的可靠性

以国家级土壤标准物GBW07401为样本,定量添加不同化学形态的镉,对较流行的加拿大地球化学家Andre’Tessier推荐的颗粒态痕量金属形态逐级提取程序进行了可靠性研究.结果表明,这一程序能以较高的准确度、精密度对土壤中各种形态的镉进行逐级提取.尽管各级分间有跨级现象,全部加标试样的平均镉回收率为97.93％.