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Chih-Ping Chen Schu-Rern Chern Wayseen Wang Chen-Chi Lee Wen-Lin Chen Li-Feng Chen Tung-Yao Chang Chin-Yuan Tzen 《黑龙江环境通报》2001,21(5):346-350
A prenatal diagnosis of partial monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) in a fetus with alobar holoprosencephaly (HPE) and premaxillary agenesis (PMA) but without the classical Down syndrome phenotype is reported. A 27-year-old primigravida woman was referred for genetic counselling at 21 weeks' gestation due to sonographic findings of craniofacial abnormalities. Level II ultrasonograms manifested alobar HPE and median orofacial cleft. Cytogenetic analysis and fluorescence in situ hybridization (FISH) on cells obtained from amniocentesis revealed partial monosomy 18p and a cryptic duplication of 21q,46,XY,der(18)t(18;21)(p11.2;q22.3), resulting from a maternal t(18;21) reciprocal translocation. The breakpoints were ascertained by molecular genetic analysis. The pregnancy was terminated. Autopsy showed alobar HPE with PMA, pituitary dysplasia, clinodactyly and classical 18p deletion phenotype but without the presence of major typical phenotypic features of Down syndrome. The phenotype of this antenatally diagnosed case is compared with those observed in six previously reported cases with monosomy 18p due to 18;21 translocation. The present study is the first report of concomitant deletion of HPE critical region of chromosome 18p11.3 and cryptic duplication of a small segment of distal chromosome 21q22.3 outside Down syndrome critical region. The present study shows that cytogenetic analyses are important in detecting chromosomal aberrations in pregnancies with prenatally detected craniofacial abnormalities, and adjunctive molecular investigations are useful in elucidating the genetic pathogenesis of dysmorphism. Copyright © 2001 John Wiley & Sons, Ltd. 相似文献
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We report on the prenatal diagnosis of ring chromosome 15 in a fetus with increased nuchal fold and intrauterine growth restriction (IUGR). A 27-year-old woman gravida 2, para 1 had normal maternal serum screen tests in the early second trimester of the index pregnancy. Fetal nuchal fold thickening up to 8 mm was incidentally found during the routine obstetric ultrasound scan at 20 weeks' gestation. Amniocentesis was undertaken and the fetal karyotype was found to be 46,XY,r(15) on cytogenetic study. Fluorescence in situ hybridization (FISH) using a telomeric probe of chromosome 15 demonstrated a terminal deletion on the q arm of the ring-shaped chromosome 15. This is the first report of a prenatally diagnosed case of ring chromosome 15. Moreover, nuchal fold thickness in the second trimester may have a role in its prenatal diagnosis. Copyright © 2001 John Wiley & Sons, Ltd. 相似文献
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Jiao Youzhou Xue Huizan He Chao Wang Zigang Ma Xiaoran Liu Xinxin Liu Liang Chang Chun Petracchini Francesco Li Panpan 《Environment, Development and Sustainability》2022,24(4):4709-4726
Environment, Development and Sustainability - Anaerobic digestion (AD) is an attractive straw resource treatment technology as it can improve the utilization efficiency of straw resource. Raw straw... 相似文献
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湿地作为水体与陆地之间的过渡地带,具有独特的生态环境特性,是氮循环反应的关键区域.研究湿地生态系统中的全程氨氧化过程(complete ammonia oxidation,comammox),解析该区域中comammox细菌的分布与群落结构特征,补充了此前该新型氨氧化微生物在湿地生态系统中分布特征的研究空白,对于完善comammox细菌在各种不同生态系统中分布情况的研究具有重要意义.本研究在石臼漾人工湿地中于冬夏两季分别采集了大沟中心、大沟边缘、小沟中心和小沟边缘的表层沉积物样品,利用PCR、荧光定量PCR和amoA功能基因高通量测序等方法,解析人工湿地中comammox细菌的时空分布与群落结构特征.主要研究结果如下:①所有样品中均检测到了comammox细菌,其丰度为1.77×105~4.07×107 copies·g-1.冬季,comammox细菌丰度在大沟中高于氨氧化细菌(ammonia oxidizing bacteria,AOB)和氨氧化古菌(ammonia oxidizing archaea,AOA),在小沟中高于AOB,但低于AOA;夏季,comammox细菌丰度在所有样点中均高于AOB和AOA.②冬夏两季样品中,comammox细菌丰度与底物NH4+-N浓度均呈负相关关系,且夏季样品中呈显著性负相关.③主坐标分析(Principle Coordinate Analysis,PCoA)与多样性分析结果表明,comammox细菌群落结构具有空间异质性,且冬季物种多样性高于夏季. 相似文献
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通过对24个飞灰样品的重金属全量消解和高精度X射线荧光光谱法(HDXRF)快速检测结果进行线性回归分析,发现HDXRF法可较准确测定飞灰中Cu、Pb、Zn、Ni和Cd含量(线性回归决定系数R230.90).采用HDXRF法对某焚烧厂飞灰重金属含量6个月快速检测及浸出毒性测定数据统计分析发现:飞灰重金属月均含量较稳定(变异系数CV<0.14)但日均含量波动较大(CV>2.54);飞灰中Pb、Cu和Zn含量呈正相关(相关系数r>0.78);金属浸出浓度受浸出液终点pH值影响显著,超标频率依次为Pb(68.9%)、Cd(66.1%)、Ni(24.0%)、Cu(14.2%)和Zn(1.6%).短期飞灰金属含量和浸出毒性数据受焚烧工况,烟气处理工况和垃圾组分等多种因素共同影响,不具有代表性.为评估垃圾分类源头削减重金属效果,建议采用快速检测方法对焚烧飞灰重金属含量进行长期监测. 相似文献
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以华南稻田土壤为研究对象通过构建微宇宙体系,研究了淹水稻田自养硝酸盐还原耦合As(III)氧化过程及其微生物群落结构组成.结果表明,NO3-的添加促进了稻田土壤中As(III)的氧化,在未添加NO3-的处理(Soil+As(III))以及灭菌处理(Sterilized soil+As(III)+NO3-)中As(III)未发生明显的氧化;在Soil+As(III)+NO3-处理中,NO3-有少量被还原,而在Soil+NO3-处理中,NO3-没有被还原.通过16S rRNA高通量分析在NO3-还原耦合As(III)氧化体系中微生物群落结构特征,在Soil+As(III)+NO3-处理中shannon指数相对较低为8.19,土壤微生物群落多样性降低,其中在门水平上主要优势菌群为变形菌门Proteobacteria(33%)、绿弯菌门Chloroflexi(11%)、浮霉菌门Planctomycetes(12%);在属水平上主要的优势菌属为Gemmatimonas(7.4%)以及少量的Singulisphaera、Thermomonas、Bacillus.NO3-的添加能够促进稻田土壤中自养As(III)氧化,并且影响着稻田土壤中微生物群落组成. 相似文献
9.
Xue Han Xin Ji Xuan M Jun-Ling Liu Zhen-Yu He Wei Chang Fei Tang Ai-Lin Liu 《环境科学学报(英文版)》2020,32(1):310-318
Changes in water quality from source water to finished water and tap water at two conventional drinking water treatment plants(DWTPs) were monitored.Beside the routine water quality testing,Caenorhabditis elegans-based toxicity assays and the fluorescence excitation–emission matrices technique were also applied.Both DWTPs supplied drinking water that met government standards.Under current test conditions,both the investigated finished water and tap water samples exhibited stronger lethal,genotoxic and reprotoxic potential than the relative source water sample,and the tap water sample was more lethal but tended to be less genotoxic than the corresponding finished water sample.Meanwhile,the nearly complete removal of tryptophan-like substances and newly generated tyrosine-like substances were observed after the treatment of drinking water,and humic-like substances were identified in the tap water.Based on these findings,toxic pollutants,including genotoxic/reproductive toxicants,are produced in the drinking water treatment and/or distribution processes.Moreover,further studies are needed to clarify the potentially important roles of tyrosine-like and humic-like substances in mediating drinking water toxicity and to identify the potential sources of these contaminants.Additionally,tryptophan-like fluorescence may be adopted as a useful parameter to monitor the treatment performance of DWTPs.Our observations provided insights into the importance of utilizing biotoxicity assays and fluorescence spectroscopy as tools to complement the routine evaluation of drinking water. 相似文献
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