Prenatal diagnosis of mosaic 4p – in a fetus with trisomy 21

Mosaicism for the Wolf-Hirschhorn syndrome, del(4)(p16), is extremely rare and has not been reported in association with a numerical chromosome abnormality. We report the prenatal diagnosis of mosaic del(4)(p16) and non-mosaic trisomy 21 in a 16-week female fetus. The pregnancy ended in spontaneous abortion at 34 weeks secondary to fetal demise. The fetus had features of both 4p – and trisomy 21.     

Production, Consumption and the World Summit on Sustainable Development

At the World Summit on Sustainable Development (WSSD), world leaders agreed that eliminating unsustainable production and consumption is one of the three overriding objectives of sustainable development. Achieving that objective should have been a major priority for the WSSD Plan of Implementation. Increases in consumption and production over the past decade were largely responsible for the worsening environmental and social trends. Unfortunately, the negotiators of the Plan paid insufficient attention to the lessons from 10 years of discussions about the concepts, the available policies and tools and their effectiveness, the impacts of those policies on developing countries, and the political commitment of countries in an era of globalization. Despite a promising proposal for a new ten-year work programme aimed at bridging the gap implementing the Agenda 21 commitments from Rio, Summit negotiators produced barely more than a muted echo of recommendations from the past which have yet to be taken seriously enough by the world's leaders in a comprehensive intergovernmental strategy. In the ten-year review of progress to achieve sustainable production and consumption (SPAC), governments quickly skipped past the critical work of examining why things are getting worse, avoiding the task of identifying the obstacles (which in some cases were themselves) and in turn avoiding the commitment to time-bound measurable targets. If nothing else, the WSSD demonstrated that a global strategy to achieve SPAC will come not from a UN consensus of world leaders but from a strategic alliance of responsible governments, civil society and others with a vision beyond the next election cycle.     

Reproduction of the Siberian spruce in the timberline ecotone of the Iremel’ Massif

Quantitative and qualitative characteristics of cones and seeds and the emergence and survival of seedlings in the Siberian spruce (Picea obovata Ledeb.) were studied in different parts of the timberline ecotone on the Iremel’ Massif, the Southern Urals, from 2003 to 2006. In the productive year 2003, a decrease in the number of cones (from 110000 to 3000 per hectare), the yield of seeds (from 13 × 10⁶ to 0.09 × 10⁶ per hectare), and their laboratory germination rate (from 34 to 14%) with an increase in elevation above sea level was recorded. In 2004, significant differences in the number of seedlings per hectare were revealed between the lower, middle, and upper parts of the ecotone (85 200, 19 800, and 0–400 ind., respectively). It has been shown that the greater part of seedlings (76–96%) perish during the first cold period. New generations of spruce trees are formed only after productive years. Seed production and seedling mortality in spruce apparently depend not only on air temperature and soil moistening but also on snow depth and soil temperature, which change more abruptly along the altitudinal gradient.     

环保产业——上海21世纪新的经济增长点

环境与经济协调发展已成为世界性主题,环境保护、绿色浪潮的呼声越来越高,许多国家都在瞄准这一全球性的环保大市场。尽管目前上海的环保产业还比较弱,但应当看到其发展的广阔前景和良好条件,只要方方面面重视环保产业的发展,环保产业必将成为上海21世纪新的经济增长点。该文从环保产业在经济发展中的作用谈起,展望了环保产业发展的市场前景,并就上海环保产业发展的主要方向作了较详细的阐述。     

Application of compost in agricultural practice could potentially cause contamination of foodstuffs with pathogenic bacteria such as Escherichia coli O157:H7. This study investigated pathogenic bacteria in compost collected from the compost facilities, an

IntroductionIncreasing public interests have been concerned onsafety foods and the environmental aspects recently,especially on the so-called organic foods , which are madefromcrops grown with organic fertilizers or compost but notchemical fertilizers .Pu…     

Prenatal diagnosis of 21-hydroxylase deficiency by rflp analysis of the 21-hydroxylase,complement C4, and HLA class II genes

In 19 pregnancies at risk for 21-hydroxylase deficiency (21OHD) in 18 families with at lea one affected child, prenatal diagnosis was performed by RFLP analysis using the enzymi Taq I and EcoRI and the DNA probes specific for the 21 OH genes, the closely linke complement C4 genes and the highly polymorphic HLA class II genes DRB, DQB, and DPI For fetal DNA analysis either chorionic villi or cultivated amniotic cells were used. In all 1 cases, a clear prenatal diagnosis was possible either with the 21OH probe alone or in mo cases, by combining the results of the different closely linked loci.     

Rapid prenatal diagnosis of aneuploidy from uncultured amniotic fluid cells using five-colour fluorescence in situ hybridization

In this paper we describe the use of five-colour fluorescence in situ hybridization for prenatal diagnosis of aneuploidy using uncultured amniotic fluid cells. The analysis is based on ratio mixing of dual-labelled probes and digital imaging for the detection and visualization of five different probes specific for the five target chromosomes, 13, 18, 21, X, and Y. A retrospective blind analysis of 30 coded uncultured amniotic fluid samples correctly detected fetal sex and five trisomy 21 cases. Multicolour fluorescence in situ hybridization used in this way allows rapid and simultaneous detection of the most frequent aneuploidies.     

Prenatal diagnosis of partial monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) with alobar holoprosencephaly and premaxillary agenesis

A prenatal diagnosis of partial monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) in a fetus with alobar holoprosencephaly (HPE) and premaxillary agenesis (PMA) but without the classical Down syndrome phenotype is reported. A 27-year-old primigravida woman was referred for genetic counselling at 21 weeks' gestation due to sonographic findings of craniofacial abnormalities. Level II ultrasonograms manifested alobar HPE and median orofacial cleft. Cytogenetic analysis and fluorescence in situ hybridization (FISH) on cells obtained from amniocentesis revealed partial monosomy 18p and a cryptic duplication of 21q,46,XY,der(18)t(18;21)(p11.2;q22.3), resulting from a maternal t(18;21) reciprocal translocation. The breakpoints were ascertained by molecular genetic analysis. The pregnancy was terminated. Autopsy showed alobar HPE with PMA, pituitary dysplasia, clinodactyly and classical 18p deletion phenotype but without the presence of major typical phenotypic features of Down syndrome. The phenotype of this antenatally diagnosed case is compared with those observed in six previously reported cases with monosomy 18p due to 18;21 translocation. The present study is the first report of concomitant deletion of HPE critical region of chromosome 18p11.3 and cryptic duplication of a small segment of distal chromosome 21q22.3 outside Down syndrome critical region. The present study shows that cytogenetic analyses are important in detecting chromosomal aberrations in pregnancies with prenatally detected craniofacial abnormalities, and adjunctive molecular investigations are useful in elucidating the genetic pathogenesis of dysmorphism. Copyright © 2001 John Wiley & Sons, Ltd.