Prenatal diagnosis of a true mosaic trisomy 20 substantiated by demonstration of a gene dosage effect for adenosine deaminase (ADA)

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.     

Evidence of a second gamete fusion after the first cleavage of the zygote in a 47,XX, + 18/70,XXX, + 18 mosaic. A remarkable diploid-triploid discrepancy after CVS

A 70,XXX, +18 karyotype was found by chorionic villus sampling, while the fetal fibroblast culture of the affected fetus revealed a 47,XX,+ 18 karyotype. From several possible mechanisms, we assume that a second gamete fusion occurred after the first cell division of the zygote. According to this interpretation, the mosaicism arose in very early pregnancy (at the two-cell stage). This discrepancy can therefore be explained by selection pressure, due to the differentiation processes in the embryonic tissues.     

Metamorphic evolution of eclogite and associated garnet-mica schist in the high-pressure metamorphic Maksyutov complex, Ural, Russia

Metasedimentary garnet-mica schists are interlayered with metabasic garnet–omphacite schists and enclose eclogite boudins in the high-pressure metamorphic Maksyutov complex in the Southern Urals, Russia. These three rock types were investigated in one outcrop and compared chemographically and thermobarometrically. The Fe/Mg distributions between garnet rim–omphacite and garnet rim–phengite pairs indicate different equilibration temperatures for the three samples, with the lowest temperature (500°C, >1.5 GPa) for the eclogite boudin, an intermediate temperature (630°C, >1.7 GPa) for the foliated eclogite and the highest temperature (650°C, >1.7 GPa) for the garnet-mica schist. The garnets in garnet-mica schist enclose abundant chloritoid relics and the Fe/Mg distribution between chloritoid and garnet records an earlier high-temperature stage (650°C, >2.0 GPa) before the garnet rim–phengite temperatures were reached. Together with some minimum- and maximum-pressure estimates three different prograde pressure–temperature paths and a common retrograde metamorphic evolution are interpreted from the chemographic and thermobarometric data. The different early metamorphic evolutions and conditions confirm the variability of protoliths, which are also indicated by different U/Pb zircon and rutile ages.     

北大西洋区域的环境变化:SCANNET作为记载、认识和预测变化的合作途径

北大西洋周边区域(SCANNET区域)涵盖了广泛的气候区、自然环境和可用自然资源范围.除了最北部地区,至少自最后一次冰期结束以来,这里就有人和多种文化存在.然而,该区在大的地理尺度上也是非常重要的,因为它影响着全球气候并支撑着在北极地区和世界其它大陆之间迁徙的动物.这一区域的气候、环境和土地利用正在发生急剧变化,预测显示,全球变暖在这里的表现会更强,而土地利用的增加会使剩余的野地急剧减少.因为本区大部分地方人口稀疏(如果有人居住的话),过去环境变化及其影响方面的观测记录也都是很少而且时段很短的.然而,记录现在正在进行的变化、认识这些变化的驱动力和预测这些变化的后果变得非常重要了.为了促进认识全球变化对北大西洋区域陆地的影响的研究,同时也为了实时监测这种变化,2000年欧共体资助成立了一个研究站点网络及其下设机构,命名为SCANNET--斯堪的纳维亚(半岛)(瑞典、挪威、丹麦、冰岛的泛称)/北欧陆地野外基础网络.SCANNET目前包括9个核心站及当地网络里面的5个站,它们一起覆盖了该区当前气候和预测的变化的广泛区域.气候指标在网络内部是共同的,而每个站点都选择特殊的环境和生态主题进行精细观测.这既保证了主题覆盖面的多样性又保证了专门技术的多样性.我们总结了SCANNET到目前为止的发现,并概述其资料基础,以增加对北大西洋环境变化数据的了解.同时我们也总结我们在理解方面的重要缺陷以及SCANNET已经存在机构和行动在促进今后的研究、监测和野外实证行动方面的作用.     

Limb reduction and chorion villus sampling

Upper limb reduction was diagnosed by ultrasound scan at 17 weeks after chorion villus sampling at 9 weeks' gestation. Pregnancy was terminated and necropsy confirmed limb reduction in an otherwise normal fetus. The relationship of limb reduction to amniotic band syndrome is discussed.