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11.
Mosaicism for the Wolf-Hirschhorn syndrome, del(4)(p16), is extremely rare and has not been reported in association with a numerical chromosome abnormality. We report the prenatal diagnosis of mosaic del(4)(p16) and non-mosaic trisomy 21 in a 16-week female fetus. The pregnancy ended in spontaneous abortion at 34 weeks secondary to fetal demise. The fetus had features of both 4p – and trisomy 21.  相似文献   
12.
A prenatally detected case of a rare mosaic tetrasomy 12p/trisomy 12p is reported, presenting as the well-known accessory isochromosome 12p and a supernumerary single 12p marker in 17/24 and 6/24 clones of cultured amniotic fluid cells, respectively. The chromosomal nature of both marker chromosomes was investigated in cultured amniotic fluid cells by fluorescent in situ hybridization with various probes: the 12-centromeric probes pa12H8 and D12Z3, a whole chromosome 12 paint, and the chromosome 12p-specific paint M28. DNA analysis revealed a maternal origin of the extra 12p material. After counselling, the parents requested termination of pregnancy. Inspection and autopsy of the fetus revealed many of the dysmorphisms and internal structural abnormalities of the Pallister–Killian syndrome.  相似文献   
13.
The diagnosis of Freeman–Sheldon syndrome was made by ultrasonographic evaluation of a 20-week fetus with a positive family history. The ultrasonographic features were abnormalities of the extremities and mouth.  相似文献   
14.
We report a gas chromatographic-mass spectrometric method which allows the very long chain fatty acids content of trophoblastic tissue to be directly measured in samples collected by biopsy between 8 and 11 weeks of gestation. This method has been successfully applied to the detection of fetal Zellweger syndrome in two pregnant women who had previously delivered affected infants. In one of them, increased concentrations of C26:0 (0.254 versus 0.108±0.035 μ/mg proteins) and C24:0 (1.32 versus 0.815±0.325 μ/mg proteins) in trophoblast indicated that the fetus had Zellweger syndrome, a diagnosis confirmed by pathological findings after abortion. In the second case, the pregnancy was allowed to proceed, on the basis of normal concentrations of very long chain fatty acids in trophoblastic tissue, and its outcome was actually a healthy newborn.  相似文献   
15.
根据瓜尔豆胶在生产食品添加剂的过程中产生的废水COD的值高迭216000mg/l的特点,分别用如下方法进行处理①调pH=6.84,按0.5%质量比加入活性炭吸附剂,静止20天,此时去除率为87.7%;②用饱和硫酸铝2mL 适量的聚丙烯酰胺絮凝,去除率为36.5%;③原液先蒸馏出1/4体积后在釜液中按3%的质量比加入Ca(OH)2,计算去除率为89.6%④利用铁炭屑以5:1的质量比形成微电池的方法作用两小时后再按3%的质量比加Ca(OH)2絮凝,此条件下去除率高达91.7%.经过比较得出第四种方法是最经济有效的,对该特种废水起到了很好的预处理作用.  相似文献   
16.
A study of the relationship between natural hazards and climate change in the international context provides the background for a discussion of the expected changes. In the context of this global discussion, this paper reviews the current perspectives of those natural hazards that are likely to be influenced by climate change, using northern Canada as a regional case study. The northern implications of the United Nations Framework Convention on Climate Change are examined, including the status of climate change action by the northern territorial governments, the evolving role of indigenous people, and the responsibility for climate change impacts. The difficulties surrounding natural hazards research in remote locations, and the approaches of indigenous people to natural hazards are then presented. The paper concludes with a suggested policy approach for climate change and natural hazards in northern Canada, underscoring the need for more comprehensive adaptive strategies to complement the current tendency to focus on the mitigation of greenhouse gases produced in this region.  相似文献   
17.
The major topographic, mesoscale, and urban influences on the wind patterns of the City of São Paulo are characterized using one year of surface wind velocity data observed at 11 surface stations within its urban limits. The data was used to study the diurnal and annual variations of wind velocity and horizontal wind divergence within the city. Results showed that the circulation over the investigated area is dominated by three major factors: sea breeze; mountain-valley circulations; and urban effects, such as roughness, building-barrier, and urban heat island. The sea breeze was found to be the dominant feature of the monthly-averaged diurnal variation of São Paulo surface winds during the eight warmest months of the year. The sea breeze front induces a velocity minimum at the time of its passage and a post-frontal afternoon velocity maximum. Mountain-valley thermal effects on the flow can be seen in the temporal divergence/convergence patterns. These thermal effects tend to be more important during colder months, at night, and when the wind velocities are low. Nighttime downslope convergent flows are present over the city during winter and spring and daytime upslope divergent flows are present over the city during summer months.  相似文献   
18.
黄土高原地区生态建设的关键问题   总被引:1,自引:0,他引:1  
从黄土高原地区水土保持生态建设的实际情况出发,结合历史经验教训,探讨了生态建设与农业发展、农民脱贫致富的关系.指出生态环境问题归根结底是人的问题,减少人类对生态环境的破坏和干扰,因地制宜地进行植被建设和生态恢复,激励广大农民自觉参与生态建设对黄土高原地区水土保持生态建设成败至关重要.  相似文献   
19.
火电厂烟气脱硫工程往往是在场地或其他条件受到诸多限制的情况下进行的,设计中总平面布置的作用显得尤其突出。以几个电厂脱硫工程的设计为例,探讨如何充分利用已有务件,协调脱硫与整个厂区总平面布置的关系,以使设计合理,经济。  相似文献   
20.
This article investigates the potential impact of sustainable energy action plans (SEAPs) on local development through a two-step methodology involving participatory planning and quantitative analysis. The first phase relies on a participatory system mapping (PSM) approach and generates a causal structure at the basis of the urban model. In the second phase, we transform the qualitative map into a system dynamic model which evaluates the effect of the SEAP on social, economic and environmental indicators. This methodology was applied to the case of Cascina Municipality (Italy). Through scenario analysis, we show that some indirect feedback can harm the achievement of the 20% emission reduction target. This process allows the local authority and stakeholders to evaluate the impact of emission reduction policies on CO2 emissions and local development, thereby generating collective learning on the systemic implications of the plan. We show that this method can enhance the ambition of emission mitigation efforts by small towns.  相似文献   
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