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211.
While true mosaicism occurs in only 0–25 per cent of genetic amniocenteses, nearly 2–5 per cent of amniotic fluid cell cultures contain a second cell line. In the common practice of prenatal diagnosis, an aberrant cell line confined to a single colony is usually disregarded. We present a case of mosaic trisomy 14 which was not detected on initial chromosome analysis. At birth, multiple malformations were apparent. Newborn cytogenetic studies revealed mosaicism [46,XX/46,XX,-14,+i(14q)] with an isochromosome 14 in 37 per cent of lymphocytes. Additional cells from the initial amniotic fluid culture were analysed post-delivery and the isochromosome 14 identified in only one of 12 total colonies. This case illustrates two important lessons in prenatal diagnosis. First, amniotic fluid cell cultures may not accurately reflect the relative distribution of the normal and abnormal cell lines within a mosaic fetus. Second, while it is generally reasonable to disregard mosaicism confined to a single colony, this policy will, on rare occasion, result in diagnostic error. This should be taken into consideration, particularly when dealing with autosomal trisomies potentially compatible with livebirth. 相似文献
212.
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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Masera Omar R. Cerón Alma Delia Ordóñez Antonio 《Mitigation and Adaptation Strategies for Global Change》2001,6(3-4):291-312
We examine carbon (C) reference and mitigation scenarios for the Mexicanforest sector between the year 2000 and 2030. Estimates are presentedseparately for the period 2008–2012.Future C emissions and capture are estimated using a simulation modelthat: a) allocates the country land use/land cover classes among differentfuture uses and categories using demand-based scenarios for forestryproducts; b) estimates the total C densities associated to each land usecategory, and c) determines the net carbon implications of the process ofland use/cover change according to the different scenarios.The options analyzed include both afforestation/reforestation, such ascommercial, bionenergy and restoration plantations, and agroforestrysystems, and forest conservation, through the sustainable management ofnative forests and forest protection.The total mitigation potential, estimated as the difference between the totallong-term carbon stock in the reference and the mitigation scenario reaches300 × 106 Mg C in the year 2012 and increases to 1,382 × 106 Mg C in 2030. The average net sequestration in the 30 year period is 46 × 106 Mg C yr-1, or 12.5 × 106 Mg C yr-1 within the period 2008 to 2012. The costs of selected mitigation options range from 0.7–3.5 Mg C-1 to 35 Mg C-1. Some options are cost effective. 相似文献
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