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41.
Accurate diagnosis of mosaicism in amniotic fluid cell cultures represents a major problem. If insufficient cells are analysed, true fetal mosaicism may go undetected. False-positive diagnosis is also possible since a second cell line may arise in vitro and not reflect the true fetal genetic constitution. These difficulties apply to both flask and in situ culture techniques, to varying degrees. The relative accuracy of flask versus in situ culture techniques in excluding mosaicism was determined by statistical analysis of experimental data from ten pairs of mixed male-female amniotic fluid specimens. The data support the idea that the majority of in situ colonies are independent of one another. The following conclusions are drawn: (1) analysis of a single metaphase from a number of different colonies enhances the confidence for excluding mosaicism; (2) analysis of more than one cell per colony offers little advantage; (3) exclusion of a given level of mosaicism requires analysis of fewer metaphases using the in situ method; (4) the confidence for excluding mosaicism is high with both in situ and flask techniques, using the provided guidelines; and (5) it is shown that the two-stage approach used by many laboratories is currently the most efficient way to exclude mosaicism.  相似文献   
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Thyroid antibodies were measured in mid-trimester antenatal serum samples from 77 pregnancies affected by fetal Down's syndrome and 385 unaffected control pregnancies. Using a haemagglutination technique, thyroglobulin antibodies were detected in 5·2 per cent of cases (4) and 2·9 per cent of controls (11), and thyroid microsomal antibodies were detected in 22 per cent (17) and 15 per cent (59), respectively. Using an enzyme-linked immunosorbent assay (ELISA) for thyroglobulin antibodies and a cut-off level of 50 KIU/1, positive results were found in 25 per cent of cases (19) and 22 per cent of controls (84). Using an ELISA for thyroid microsomal antibodies and the same cut-off level, the proportions were 52 per cent (40) and 39 per cent (149), respectively. While not statistically significant, the differences were consistent with the previously reported increased levels of thyroid antibody found in nonpregnant women who had had pregnancies associated with Down's syndrome.  相似文献   
44.
A de novo paracentric inversion of chromosome 11 identified through antenatal diagnosis is described along with long-term follow-up information on the child and discussion of reported experiences with de novo inversions.  相似文献   
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Accurate carrier testing and prenatal diagnosis in Duchenne muscular dystrophy (DMD) families is facilitated when an Xp21 deletion is found to be segregating within a family. We discuss the results of the DNA testing in two families, one in which DNA from affected males was available for study and the other in which no DNA from an affected male was available. Factors complicating the counselling of DMD deletion families are outlined.  相似文献   
47.
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   
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Deposition velocities have been determined for corn and soybeans in the first 4–6 weeks of growth in a full-scale study of canopy flow in a wind tunnel. Particles of 1, 5, 10 and 15 μm aerodynamic diameter made of sodium florescein were injected into the Environmental Wind Tunnel Facility at Colorado State University. Deposition velocities were determined as a function of free stream velocity (183, 305 and 610 cm/s) and approach flow turbulence intensity (~1% and 8%). Plants were arranged in realistic field configurations. Hot-wire anemometer studies confirmed that the fluid velocity profiles developed in the wind tunnel were similar to the flow realized in canopies in natural fields. An increase in velocity and turbulence intensity was found to decrease the deposition velocities. A minimum deposition velocity was observed at a particle diameter of 5 μm.  相似文献   
50.
Oil/Suspended Particulate Material Interactions and Sedimentation   总被引:1,自引:0,他引:1  
The interactions of physically dispersed oil droplets with suspended particulate material (SPM) can be important for the transport of bulk quantities of spilled crude oil and polycyclic aromatic hydrocarbons (PAH) to subtidal sediments. The literature regarding oil/SPM interactions is reviewed, and results from whole-oil droplet/SPM interaction kinetics and pure-component (Prudhoe Bay crude oil distillate cut) equilibrium partitioning experiments are presented. The effects of oil type, SPM characteristics, and salinity on the interaction rates are examined, and the importance of whole-oil droplet/SPM interactions on particle agglomeration and settling behavior are discussed. Whole-oil droplet/SPM interactions are retarded as oil droplet dispersion into the water column is inhibited by oil viscosity increases due to evaporation weathering and water-in-oil emulsification. Compared to whole oil droplet/SPM interactions, dissolved-component/SPM adsorption is not as significant for transport of individual components to sediments. The information presented in this paper can be used to augment computer-based models designed to predict oil-spill trajectories, oil-weathering behavior, and spilled oil impacts to the marine environment.  相似文献   
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