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.     

防灾预案研究

本文提出了防御灾害预案的五要素和逻辑结构,进而讨论了防灾预案的优化准则、制定程序等问题。     

中国安全防范产品行业协会第三届第三次理事(扩大)会议总结

各位理事、各位来宾、同志们、朋友们: 为期三天的中国安全防范产品行业协会第三届第三次理事(扩大)会议,完成了各项预定议程,顺利结束.     

金属加工过程中应力状态的分析方法

分析简单地拉伸、压缩和扭转的情况时,应力状态能容易地被确定.但是,实际上在金属加工过程中材料是承受复杂的应力状态,在模具——工件接触面上增加有摩擦力.而且,这些应力和摩擦力一般地沿着接触面变化.准确的计算或预测载荷、力、应力和温度,不但对设计适宜的设备是重要的,而且对研究工艺期间材料的变化过程也是重要的.本文将讨论材料变形过程中所运用的主要分析方法及其优缺点.     

长江流域的昆虫病毒资源及其开发利用

在长江流域已发现约１３０种昆虫病毒，其中多数属杆状病毒科。昆虫病毒作为杀虫剂在本地区广泛应用，防治棉花、森林、茶树、蔬菜和牧草上的害虫，克服了化学农药的一些缺点，取得了良好的生态效益和经济效益。近年来还进行了杆状病毒表达载体的研究，该系统的研制已用于高水平表达具有生物活性的外源基因产物，获得医药产品，或者组建更有效的基因工程病毒杀虫剂。     

Photodegradation of TCDD in soil containing organic solvents

Studies were conducted to understand 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) behaviour in the near surface zone in relation to the operating conditions: UV-intensity, temperature and exposure modes. Comparisons have been made between Oriel lamp exposure tests and sunlight exposure tests. Under Oriel lamp exposure, the convective transport of TCDD, which depends on operating temperature, was the limiting factor in the cleanup process. The product differences between Oriel exposure tests and sunlight exposure tests probably result from the difference of UV-intensities.     

Increased fetal nuchal fold leading to prenatal diagnosis of ring chromosome 15

We report on the prenatal diagnosis of ring chromosome 15 in a fetus with increased nuchal fold and intrauterine growth restriction (IUGR). A 27-year-old woman gravida 2, para 1 had normal maternal serum screen tests in the early second trimester of the index pregnancy. Fetal nuchal fold thickening up to 8 mm was incidentally found during the routine obstetric ultrasound scan at 20 weeks' gestation. Amniocentesis was undertaken and the fetal karyotype was found to be 46,XY,r(15) on cytogenetic study. Fluorescence in situ hybridization (FISH) using a telomeric probe of chromosome 15 demonstrated a terminal deletion on the q arm of the ring-shaped chromosome 15. This is the first report of a prenatally diagnosed case of ring chromosome 15. Moreover, nuchal fold thickness in the second trimester may have a role in its prenatal diagnosis. Copyright © 2001 John Wiley & Sons, Ltd.     

我国人口资源与食物问题

人口增多,耕地减少,部分地区供水不足,是我国人口与资源矛盾的基本格局。由于人口的压力,对资源实行超强度的利用,使较大范围的地区生态环境恶化,严重威胁农业生产,并成为许多地区多灾、低产、贫困的根本原因,较低的食物人均占有水平,将继续成为中国国民经济发展和人民生活水平提高的严重限制因素。增加食物,必须挖掘资源的潜力,开源与节流相结合,以内涵挖潜为主。首先是要立足现有的耕地,致力于提高单产;同时,合理开发水域、山地、草地等资源,广辟食物来源,提高非耕地资源的生产力,提高林牧渔业的发展水平。耕地应以深度开发为主,走资源节约型(节地、节水、节时、节能)的集约化道路。     

广州轨道交通三号线高速行驶条件下对安全限界的影响研究

给出了轨道交通车辆横向偏移量的计算方法 ,并应用列车 -线路动力耦合模型 ,分析了广州地铁三号线的安全限界变化问题。确定了当前按 80km/h行车速度设计的建筑限界能满足 13 0km/h行车速度的要求 ,限界尺寸不需改动可保证列车运行安全平稳