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51.
Prenatal diagnosis on chorionic villous tissue was performed for a woman with the karyotype 46,XX,t(2;18)(q32;q12)—a subtle ‘difficult’ translocation. The case illustrates the necessity of good quality cytogenetics for accurate prenatal diagnosis. For chorionic villi this can be obtained only with long-term culture. 相似文献
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Conxi Lazaro Antonia Gaona Anna Ravella Victor Volpini Dr. Xavier Estivill 《黑龙江环境通报》1995,15(2):129-134
Even though the neurofibromatosis type 1 (NF1) gene was cloned more than 3 years ago, the process of identifying mutations has not been fruitful, and genetic counselling is mainly based on the use of linked markers. Since 1990, we have analysed 130 NF1 families and have performed six prenatal diagnoses. In each case, genetic counselling has relied on linked markers and informativity was achieved in all of them. The use of intragenic microsatellite polymorphisms (IVS27AAAT2.1, IVS27AC28.4, IVS27AC33.1, and IVS38GT53.0) has increased the informativeness in our series of NF1 families to an average of 90 per cent, providing accurate diagnosis and confirmation of the disease status. 相似文献
53.
Bilateral cleft lip and cleft palate can be diagnosed by ultrasonography prior to 20 weeks of pregnancy. The anomaly produces an abnormal facial profile and, on cross-section, the clefts in the maxilla are demonstrable. The method is illustrated by sonograms from a fetus in which the defect was diagnosed before trisomy 13 became known by karyotyping. 相似文献
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Dr Abdal‐Majeed I. Daghistani BA MSc PhD MRTPI 《Journal of Environmental Planning and Management》1991,34(1):2-9
The towns and cities of Saudi Arabia have been subjected to sustained growth pressures since the transformation of the country's economy following the discovery of oil in the Eastern Province of the Kingdom. The rapid growth which has been experienced has created major problems for the central and local government agencies responsible for planning and managing urban growth. The experience of Jeddah, one of the major cities in Saudi Arabia, is described and the problems of planning and managing its growth are analysed. Weaknesses relating to the structure of the planning system are identified, as are major difficulties in relation to the quality and quantity of professional staff. Recent attempts to improve the operation of the planning system are described and evaluated. 相似文献
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Dr. Hana L. Ayala 《Environmental management》1987,11(2):141-147
We are witnessing a growing concern with the global dimension of many environmental issues, reflected in the increase in the number and significance of international environmental organizations. Yet there is no internationally applicable strategy for environmental research which is management oriented. A new type of research policy, which integrates ideas derived from environmental and human ecology, is required in order to deal with cultural and ecological diversity and their interactions as reflected in the ecology of landscapes. The newly defined concept of environmental health is proposed to fill this gap. This concept integrates the latest developments in landscape evolutionary ecology and environmental health, bringing out a conflict between making the environment conducive to human health and increasing the available options for supporting the essential biological and ecological processes of the environment. Lessons derived from the evolution of human environments are used in order to illustrate how health may become un umbrella for developing an environmental research policy, which could also serve as a catalyst for international environmental projects. 相似文献
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