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We report a 16-month-old boy with delayed psychomotor development, dysmorphic features, and failure to thrive. He had a mosaic karyotype detected prenatally: mos 46,XY/47,XY,+r(20)/47,XY,+20. After birth, the abnormal cell lines were confirmed in a number of tissues. The small ring chromosome was identified using fluorescence in situ hybridization as derived from chromosome 20. We compared our patient with previously reported cases of mosaic trisomy 20 detected prenatally and associated with an abnormal phenotype. In an attempt to characterize an r(20) syndrome, we also compared our case with two similar reports in the literature.  相似文献   
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Many authors have suggested that individuals affected by a terminal 1q deletion display a phenotypically definable and recognizable syndrome. In all of the 27 cases reported to date, the breakpoints were at band q42 or distally to it. To our knowledge, we report the first case of a terminal 1q41 deletion. Diagnosis was made prenatally by amniocentesis, following ultrasonographic diagnosis of omphalocele, cerebral ventriculomegaly, and increased nuchal fold thickness in a 19-week female fetus. Multiple facial and extremity features were consistent with the proposed distal 1q deletion syndrome; omphalocele, however, has not been reported previously. The absence of liver herniation into the omphalocele sac in this case supports the previously reported association of this finding with chromosomal anomalies.  相似文献   
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IntroductionTheprocessofmunicipalsolidwaste(MSW)isoneofthemostseriousissuesintermsofenvironmentalprotection.ProcessingofMSWwithoutfurtherdisastrouscontaminationcanbeachievedonlyinmodernizedmeasures,suchasincineratingandenergygeneratingconcurrently(Shen…  相似文献   
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Chinese life cycle impact assessment factors   总被引:5,自引:0,他引:5  
IntroductionLifecycleassessment(LCA)isanenvironmentalmanagementtoolthatisusedtoexamineandevaluatetheenvironmentalimpactsassociatedwiththeexistenceofproducts(Jensen,1998;Weidema,1997;Wenzel,1997).ThefocusofLCAisontheentirelifecycleoftheproduct,i.e.fromtheextracti…  相似文献   
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IntroductionChengdu KunmingRailwayLineislocatedonthemountainregionofsouthwesternChina .Therearealotofdebrisflowgulliesspreadingbesidethisrailwayline .Onsummer,thedebrisflowoftenburstsandthreatensthesafetyoftherailwaytransportation.In 1981,alarge scaledebris…  相似文献   
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Ten out of the 12 new EU members, used to belong to the so-called “former eastern block”, with a post WWII environmental policy radically different from the tendencies followed in Western Europe. The lack of conservation regulations has resulted in a rather harmful industrialization, regarding natural resources and environmental quality. While air pollution transfer is a phenomenon of transboundary level, there is a particular interest in examining the contribution of the new EU member states to the environmental pressure faced by the older member states and vice versa. The current study utilises the official data for almost 20 years published by the European Monitoring and Evaluation Program concerning the transboundary transfer of NOx and SO2 in order to analyse the situation and discuss the present and future environmental policy regarding air pollution.  相似文献   
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