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21.
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.  相似文献   
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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.  相似文献   
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企业在建设项目决策时就应该按照清洁生产的原则,从源头控制污染。提出了在项目决策中,应从产品选择、工艺路线选择、主要设备选型和节能降耗4个方面进行清洁生产的分析方法,通过此分析方法的应用,可以避免项目决策中的环境失误和降低企业的环境风险。  相似文献   
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文章从四个方面阐释学生文化体系的构成,即重在打基础,鼓励学生个性化发展;培植防灾学院自己的学生文化“精英”;创新与创业是学生文化的闪光点;培育一个好的学生文化的管理环境。做到此四点,就可办一个好的、有特点的、合格的高等学校。本文有的放矢,用事实来说话。  相似文献   
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Whereas past research has treated co-management of common pool resources as if villagers and project implementing authorities were the only relevant actors, numerous external factors beyond the control of these two partners create barriers to successful co-management. This paper draws on discussions with Forest Department officials to examine the influence of these forces on the outcomes of Joint Forest Management (JFM) in Tamil Nadu, India. An empirical inquiry into the operational aspects of JFM indicates the important roles of political parties, powerful people, and other state institutions and functionaries as well as the flow of foreign funding. Further, the strong demand by local people for socio-economic development interventions as opposed to improvement of degraded forests belittles the role of the Forest Department relative to other departments. Numerous other conditioning factors and relationships are explored. The authors call for reforms in public governance to allow better participation of all the actors involved for this participatory management approach to succeed and sustain.  相似文献   
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Although stewardship has been widely defined and used in environmental management and planning, there is a dearth of studies that describe how the lay public perceives this concept. A national sample of residents in 14 states who live near DOE nuclear facilities were interviewed to delineate public understanding and awareness of the stewardship program of the U.S. Department of Energy (DOE). This study discusses the findings of the survey and discusses how institutional trust influences public participation and resident’s choices of potential stewards. Almost 40% of the respondents could not define stewardship; those who did, believed that ‘responsibility,’ ‘management,’ and ‘accountability’ are key elements of stewardship. In addition, about a third of the respondents identified Federal groups and the DOE as potential stewards. Readers should send their comments on this paper to: BhaskarNath@aol.com within 3 months of publication of this issue  相似文献   
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Urban agglomeration of the Yangtze Delta (UAYD), one of the most developed regions of China, has witnessed an increasing prevalence in building ecological cities when the ecological cities are pursued by many modem cities, and great achievements have been made in this regard. It is inevitable, however, that certain problems exist during the construction of ecological city, which include but not limited to non-harmonious development of urban complex ecosystem, and the difficulty in quantifying eco-city construction or incomplete quantification in assessing the construction of present and future eco-city. Based on the analysis on social-economic conditions and regional conditions of the UAYD, this paper attempts to set up an index system of eco-cities combining with local characteristics, and to adopt the indices of eco-city, urban harmony, and eco-city colligate to evaluate the ecological level, urban harmonious development and eco-city construction of cities within the UAYD. Results indicate that among 15 cities in UAYD, Suzhou City ranks the highest in terms of eco-city construction, whereas Nantong ranks relatively lower; sustainable eco-city construction is possible only when cities are developed in every respect of harmony.  相似文献   
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