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Five cases of mosaicism for an isochromosome of 20q have been detected from a total of 50 000 cases analysed for prenatal diagnosis by amniocentesis. Karyotypes were designated mos 46,X_/46,X_,i(20q). In all cases, the abnormal cell line was detected in more than one primary culture, thus fulfilling the criterion for true (level III) mosaicism. Indications for prenatal diagnosis were parental anxiety (two cases), low maternal serum alpha-fetoprotein (AFP) (two cases), and high maternal serum AFP (one case). Level II ultrasounds on all five fetuses were normal, and the abnormal cell line was never detected in fetal blood and/or cord blood. All five pregnancies were continued and had normal outcomes, with birth weights ranging from 2.4 to 3.8 kg. The development of all five children has been normal, with the oldest child in the study now 4 years of age. We suggest that the abnormal cell line in each case was of extrafetal origin, and that this may be one of the more common examples of this phenomenon, occurring in approximately 1/10000 prenatal diagnoses. Mosaicism i(20q) may have been missed in the past because of the higher resolution necessary to detect this subtle change. 相似文献
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Fibroblasts from a fetus with the prenatal diagnosis of mosaic trisomy 20 were cloned by dilution plating. Adenosine deaminase (ADA), a biochemical marker for chromosome 20, was assayed in trisomic clones and normal clones as control. The cytogenetic diagnosis was substantiated by demonstration of a triplex gene dosage effect for ADA in the trisomic cells. 相似文献
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Denise A. S. Batista PhD Cathleen Escallon Karin J. Blakemore Gail Stetten 《黑龙江环境通报》1995,15(2):123-127
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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Prenatal diagnosis of trisomy 20 mosaicism was made in two pregnancies by chromosome analysis of cultured amniotic fluid cells. In both cases, the pregnancy continued to term and a healthy male infant was delivered. Regular assessments up to the age of 6-5 years revealed normal physical and intellectual development in both children. 相似文献
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G20峰会期间杭州地区空气质量特征及气象条件分析 总被引:1,自引:0,他引:1
利用空气质量和气象要素的监测资料与再分析资料,分析了2016年G20峰会期间(2016年8月10日—9月20日)杭州及周边地区空气质量演变及区域特征,探讨了气象条件对G20峰会期间杭州空气质量的影响.结果表明:G20峰会管控期间,由于机动车排放大幅度降低,杭州NO_2浓度较管控前有所下降,对比周边城市降幅居于首位;而由于不利气象条件的影响,PM_(2.5)、PM_(10)、SO_2、CO和O_3浓度比管控前有不同程度的增长,但增幅相比周边城市较小,说明管控措施对杭州空气质量有一定的改善效果.9月7日管控措施结束后污染反弹现象明显.气象条件对杭州的空气质量有重要影响:在管控前,杭州晴热高温天气有利于O3的生成,偏东风相对洁净,污染传输较少;在管控期,杭州虽受到静稳天气和外来污染传输的影响,但得益于减排应急管控措施的有效实施,NO_2浓度下降幅度最大,其他污染物的增幅也较周边城市偏小;在管控后,气象条件不利于污染物的垂直扩散,受静稳天气和污染源恢复常态的影响,PM_(2.5)、PM_(10)、NO_2、SO_2和CO出现了整个研究时段的最大值,而台风"莫兰蒂"使得杭州PM_(2.5)、PM_(10)和O_3浓度出现了整个研究时段的最低值. 相似文献
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20世纪重大自然灾害评析 总被引:24,自引:8,他引:16
人类在科学技术上取得了辉煌成绩的同时,在认识自然和改造自然方面也得到了才识和新的认识,这一教训主要是来自自然灾害。根据收集到的全球自然灾害有关数据,对20世纪全球主要自然灾害特征分布特点进行了分析,并对其成因提出了看法。 相似文献
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Shalamu Abudu J. Phillip King Zhuping Sheng 《Journal of the American Water Resources Association》2012,48(1):10-23
Abudu, S., J.P. King, Z. Sheng, 2011. Comparison of the Performance of Statistical Models in Forecasting Monthly Total Dissolved Solids in the Rio Grande. Journal of the American Water Resources Association (JAWRA) 48(1): 10‐23. DOI: 10.1111/j.1752‐1688.2011.00587.x Abstract: This paper presents the application of autoregressive integrated moving average (ARIMA), transfer function‐noise (TFN), and artificial neural networks (ANNs) modeling approaches in forecasting monthly total dissolved solids (TDS) of water in the Rio Grande at El Paso, Texas. Predictability analysis was performed between the precipitation, temperature, streamflow rates at the site, releases from upstream reservoirs, and monthly TDS using cross‐correlation statistical tests. The chi‐square test results indicated that the average monthly temperature and precipitation did not show significant predictability on monthly TDS series. The performances of one‐ to three‐month‐ahead model forecasts for the testing period of 1984‐1994 showed that the TFN model that incorporated the streamflow rates at the site and Caballo Reservoir release improved monthly TDS forecasts slightly better than the ARIMA models. Except for one‐month‐ahead forecasts, the ANN models using the streamflow rates at the site as inputs resulted in no significant improvements over the TFN models at two‐month‐ahead and three‐month‐ahead forecasts. For three‐month‐ahead forecasts, the simple ARIMA showed similar performance compared to all other models. The results of this study suggested that simple deseasonalized ARIMA models could be used in one‐ to three‐month‐ahead TDS forecasting at the study site with a simple, explicit model structure and similar model performance as the TFN and ANN models for better water management in the Basin. 相似文献