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We report a semilobar holoprosencephaly (HPE) in a post-intracytoplasmic-sperm-injection pregnancy. It was suggested by ultrasonography (US), documented on karyotype, identified with magnetic resonance imaging (MRI), established after birth and confirmed on post-mortem autopsy. An amniocentesis revealed a de novo apparently balanced reciprocal translocation 46,XY, t(7;8) (q31.3;q12). Fluorescence in situ hybridization (FISH) identified a deletion in the region of the Sonic Hedgehog gene (SHH) on der(8); nevertheless, the subtelomeric regions for chromosomes 7 and 8 were present. The parents decided to continue the pregnancy; a boy was born and survived for 3 days. The brain autopsy confirmed the semilobar HPE previously noted on US and MRI. Further, band-specific FISH revealed, in addition to SHH deletion, the presence of an inversion in the 7q translocated material on der(8). The parents' karyotypes were normal. An unexpected complex rearrangement was present in a de novo apparently balanced reciprocal translocation in a semilobar HPE. Copyright © 2007 John Wiley & Sons, Ltd.  相似文献   
95.
The goal to noninvasively detect fetal aneuploidies using circulating cell-free fetal DNA in the maternal plasma seems to be achieved by the use of massively parallel sequencing (MPS). To date, different MPS approaches exist, all aiming to deliver reliable results in a cost effective manner. The most widely used approach is the whole genome MPS method, in which sequencing is performed on maternal plasma to determine the presence of a fetal trisomy. To reduce costs targeted approaches, only analyzing loci from the chromosome(s) of interest has been developed. This review summarizes the different MPS approaches, their benefits and limitations and discusses the implications for future noninvasive prenatal testing. © 2013 John Wiley & Sons, Ltd.  相似文献   
96.
Eckberg JO  Tenhumberg B  Louda SM 《Ecology》2012,93(8):1787-1794
A current challenge in ecology is to better understand the magnitude, variation, and interaction in the factors that limit the invasiveness of exotic species. We conducted a factorial experiment involving herbivore manipulation (insecticide-in-water vs. water-only control) and seven densities of introduced nonnative Cirsium vulgare (bull thistle) seed. The experiment was repeated with two seed cohorts at eight grassland sites uninvaded by C. vulgare in the central Great Plains, USA. Herbivory by native insects significantly reduced thistle seedling density, causing the largest reductions in density at the highest propagule inputs. The magnitude of this herbivore effect varied widely among sites and between cohort years. The combination of herbivory and lower propagule pressure increased the rate at which new C. vulgare populations failed to establish during the initial stages of invasion. This experiment demonstrates that the interaction between biotic resistance by native insects, propagule pressure, and spatiotemporal variation in their effects were crucial to the initial invasion by this Eurasian plant in the western tallgrass prairie.  相似文献   
97.
库珀(COOP)公司是瑞士最大的通过有利于环境保护以及公平贸易的销售商.其可持续的零售工作主要集中在4种具有"生态旗舰"标签的产品:有机和放养的食品、有机纺织品和化妆品,互利交易商品以及其它产品.这些产品的成功销售主要依靠与供货商的紧密合作.作为商品的质量担保人库珀公司通过采用指导原则、行为原则、合格证标准和独立控制原则以确保其经营商品达到标准.以它的有机棉纺织品为例,库珀公司帮助那些发展中国家的农民进行了从传统的种植方法到有机品种种植的过渡.  相似文献   
98.
Ideally, the response of electrochemical detectors is proportional to the concentration of targeted airborne chemicals and is not be affected by concomitantly present substances. Manufacturers provide a limited list of cross-sensitivities but end-users have anecdotally reported unexpected interferences by other substances. Electrochemical detectors designed to measure airborne levels of CO, H(2)S, NO, NO(2), or SO(2), were challenged with potentially interfering substances in the absence of target analytes. Cross-sensitivities undocumented by the manufacturers were observed and were found to vary between different models of instruments for the same challenge chemical.  相似文献   
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