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We report a case of severe intrauterine growth retardation (IUGR) and hypospadias in association with trisomy 22 diagnosed following chorionic villus sampling (CVS). Subsequent analysis of amniotic fluid cultures showed a normal male karyotype, 46,XY. As a previous case had been reported with similar abnormalities, in association with maternal uniparental disomy (UPD) 22, molecular studies were also performed. Microsatellite marker studies showed biparental inheritance. Follow-up studies after delivery showed a normal cell line in lymphocytes with the trisomy appearing to be confined to the placenta. The present case concurs with other earlier reports that maternal UPD for chromosome 22 has no impact on the phenotype. The features seen in the fetus are most likely the result of placental dysfunction due to trisomy, tissue-specific mosaicism and/or the effects of local growth restriction. Copyright © 2002 John Wiley & Sons, Ltd.  相似文献   
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ABSTRACT

The University of Denver (DU) has developed a new remote sensor for the measurement of mobile source nitric oxide (NO). This system is integrated with an existing infrared remote sensor and is capable of measuring carbon monoxide and hydrocarbons in addition to NO, at a rate of more than 1000 vehicles/hr. The detection limit on a low-emitting vehicle under typical measurement conditions is 24 parts per million NO (3σ). Measurements from this instrument correlated well in a side-by-side comparison with the previous NO remote sensor developed at DU, and we have used this study to confirm a suspected interference by aromatic hydrocarbons in the older instrument. The results of an extended field experiment using the new instrument, conducted in fall 1997, are also presented. The NO emissions of the fleet measured in this study (averaging 15.0 g NO/gal) exhibit a skewed distribution typical of mobile sources. This paper also describes the relationship between NO emissions and model year and NO emissions and vehicle acceleration, as measured by the new remote sensor.  相似文献   
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New adaptations of analytical equations for predicting the impact of solute transport through composite landfill liners on groundwater quality for steady-state conditions are presented. Analytical equations are developed for evaluating average concentration and mass flow rate in an underlying aquifer resulting from diffusion of volatile organic compounds (VOCs) through intact composite liners and transport of inorganic constituents through defects in composite liners. The equations are applied to evaluate the effectiveness and equivalency of composite liners having either a 0.6 m-thick compacted soil liner or a 6.5 mm-thick geosynthetic clay liner (GCL) overlying an intermediate attenuation layer and an aquifer having horizontal flow. Example analyses for designing composite liners meeting particular performance criteria are also provided. The analytical equations are relatively simple to apply and can be used for preliminary design and analysis, to evaluate experimental results, and to possibly verify more complex numerical models for evaluating the impact of landfills on groundwater quality if consistency of the assumptions of the analytical equations and the more complex numerical models can be specified.  相似文献   
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Hammersly and Handscomb1 describe Monte Carlo Methods as a branch of experimental mathematics concerned with experiments on random numbers. The purpose of this paper is to suggest methods through which this powerful technique can be applied to the problem of evaluating the return period of a concentration estimate.  相似文献   
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