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The index patient is a female fetus in which prenatal diagnosis of 8p trisomy was established after amniocentesis at 16 weeks of gestation. This fetus was the unbalanced product of a maternal translocation of 5q/8p (karyotype: 46,XX,t(5;8)(q35;pl 1). Internal malformations include an anomalous lobature of the right lung, a little and high atrio-ventricular communication, and an anomaly in the number and shape of the aortic semilunar valves. The possible relationship between the phenotype and the chromosomal abnormality is briefly discussed. 相似文献
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L. Stripparo M. Buscaglia M.D. L. Longatti L. Ghisonl F. Dambrosio S. Guerneri F. Rosella M. Lituania M. Cordone P. De Biasio U. Passamonti G. Gimelli C. Cuoco 《黑龙江环境通报》1990,10(6):359-364
Between May 1987 and November 1988, 505 early amniocentesis within the 15th week of gestation were performed at the First Department of Obstetrics and Gynaecology,‘L. Mangiagalli’ of the University of Milan and at the Department of Obstetrics and Gynaecology of ‘Gaslini’ hospital in Genoa. A total number often abnormal fetal karyotypes were diagnosed. In addition, one case of pseudomosaicism (not confirmed on fetal blood) and one case of osteogenesis imperfecta type II (observed at ultrasound examination) were also detected. Eleven pregnancies were therefore terminated because of an abnormal fetus. Out of 494 pregnancies (excluding terminated pregnancies) there were 16 fetal losses within the 28th week; ten of these occurred in the 2 weeks following the procedure. There were 475 live-births, of which 447 were term deliveries and the other 28 deliveries occurred before the 37th week of gestation. 相似文献
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Mosaic trisomy 15 was prenatally diagnosed on amniotic fluid cells from two consecutive amniocenteses and was confirmed on cells from five different fetal tissues. The proportion of normal versus trisomic cells was consistently higher in the amniotic cell cultures and-with one exception-in the fetal tissues, while serial subcultures gave different results. The slightly atypical external features and internal malformations of the affected fetus as compared to the only clinical observation from the literature are not unusual enough to allow the delineation of a specific malformation pattern. 相似文献
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Cuoco Emilio Viaroli Stefano Paolucci Vittorio Mazza Roberto Tedesco Dario 《Environmental geochemistry and health》2022,44(7):2065-2082
Environmental Geochemistry and Health - A theoretical pattern for Fe and As co-precipitation was tested directly in a groundwater natural system. Several monitoring wells were sampled to identify... 相似文献
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Rufino Francesco Busico Gianluigi Cuoco Emilio Muscariello Lidia Calabrese Sergio Tedesco Dario 《Environmental geochemistry and health》2022,44(7):2083-2099
Environmental Geochemistry and Health - An integrated approach using chemical and microbial indicators has been tested in two different sites of the Campania Plain (Southern Italy) with different... 相似文献
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Sacchi Elisa Cuoco Emilio Oster Harald Paolucci Vittorio Tedesco Dario Viaroli Stefano 《Environmental geochemistry and health》2022,44(7):1-28
Environmental Geochemistry and Health - The Riardo basin hosts groundwater exploited for the production of high quality, naturally sparkling, bottled water (e.g., Ferrarelle water), and circulating... 相似文献
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Rufino Francesco Cuoco Emilio Busico Gianluigi Caliro Stefano Maletic Erica L. Avino Rosario Darrah Thomas H. Tedesco Dario 《Environmental science and pollution research international》2021,28(34):46614-46626
Environmental Science and Pollution Research - The Italian Apennines are among the most important sources of freshwater for several Italian regions. With evidences of deep CO2-rich fluids intruding... 相似文献
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A first trimester prenatal diagnosis was offered to a mother whose child had died of haemolytic anaemia and multisystem disease caused by TPI deficiency. The deficiency state was characterized by greatly reduced TPI activity in both erythrocytes and peripheral lymphocytes. Specific activity of TPI in trophoblast homogenates from the index fetus was about 30 per cent less than in the controls, but the heat stability test showed overlap. These data were confirmed in uncultured and cultured amniotic cells, where glycolytic intermediate concentrations DHAP, GAP and FDP fell in the range of controls. These results suggested that the fetus was a TPI heterozygote. This prenatal prediction was confirmed by RBC and haematological studies at birth. 相似文献
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