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.     

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。     

GB/T18664-2002《呼吸防护用品的选择、使用与维护》系列讲座第二讲了解呼吸防护用品的分类和防护功能

有关呼吸防护用品的知识非常重要,它不仅使我们了解每类产品的功能和特点,更重要的是了解其局限性,因为没有一种防护用品是万能的,所以这些知识可帮助我们做出尽可能安全的选择。呼吸防护用品主要分过滤式和隔绝式两类(表1)。     

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.     

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     

滇池鲤鱼的背景元素调查

通过滇池鲤鱼与松花坝水库和国内外同类鲤鱼的元素含量对比,确认滇池鲤鱼受工业污水的危害影响主要是As、Se。鱼体As、Se含量目前已经超过正常值,Ni、Cr、Cu、Fe、Pb比正常值偏低,其它元素属正常值范围。为了避免过多的元素富集,建议滇池鲤鱼以半年到一年为生长捕捞期为宜。     

南宁城市大气污染对人体健康的危害及治理对策

南宁市大气属煤烟型污染 ,大气的主要污染物为SO2 、NOx、TSP、降尘 ,虽然随着环境管理和污染治理工作的加强 ,污染物浓度逐年下降 ,但是工业区大气污染仍然较重。污染物流行病学调查显示 :工业区癌症和呼吸系统疾病死亡率均高于全市平均水平 2倍左右 ,城区又高于郊区 2倍 ,大气污染综合指数与呼吸内科门诊就诊人数呈正相关。用邓聚龙的灰色系统理论分析得知污染物对癌症和呼吸系统疾病死亡率有关联 ,关联度从大到小排序为 :TSP >降尘 >SO2 >NOx ,最后提出了大气污染治理的对策。