Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21

Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males. Copyright © 2002 John Wiley & Sons, Ltd.     

The State of the Mammal Community of Boreal Forest Ecosystems in the Vicinity of a Nickel-Smelting Plant

The effect of industrial air pollution on natural small mammal populations has been studied in the northern taiga subzone of the boreal forest zone. The results of long-term monitoring have been used to demonstrate the possibility of predicting changes in the main population and community characteristics of the animal species studied as dependent on the degree of anthropogenic impact.     

Environmental contaminants in prey and tissues of the peregrine falcon in the Big Bend Region, Texas, USA.

Peregrine falcons (Falco peregrinus) have been recorded nesting in Big Bend National Park, Texas, USA and other areas of the Chihuahuan Desert since the early 1900s. From 1993 to 1996, peregrine falcon productivity rates were very low and coincided with periods of low rainfall. However, low productivity also was suspected to be caused by environmental contaminants. To evaluate potential impacts of contaminants on peregrine falcon populations, likely avian and bat prey species were collected during 1994 and 1997 breeding seasons in selected regions of western Texas, primarily in Big Bend National Park. Tissues of three peregrine falcons found injured or dead and feathers of one live fledgling also were analyzed. Overall, mean concentrations of DDE [1,1-dichloro-2,2-bis(p-chlorophenyl)ethylene], a metabolite of DDT [1,1,1-trichloro-2,2-bis(p-chlorophenyl)ethane], were low in all prey species except for northern rough-winged swallows (Stelgidopteryx serripennis, mean = 5.1 microg/g ww). Concentrations of mercury and selenium were elevated in some species, up to 2.5 microg/g dw, and 15 microg/g dw, respectively, which upon consumption could seriously affect reproduction of top predators. DDE levels near 5 microg/g ww were detected in carcass of one peregrine falcon found dead but the cause of death was unknown. Mercury, selenium, and DDE to some extent, may be contributing to low reproductive rates of peregrine falcons in the Big Bend region.     

Mineralogical characterization of the Tournemire argillite after in situ interaction with concretes

This study aims to investigate, through mineralogical characterization (SEM, XRD) and mass-balance calculations, the effects of contact time, concrete types and presence of free water on the Tournemire argillite under in situ conditions. Three sampling zones from Excavation Disturbed Zone (EDZ) areas have been chosen: (1) dry contacts, collected at the tunnel masonry/argillite interface (contact time - 125 years), (2) wet contacts, taken close to drained areas below the tunnel roadbed in contact with the canal draining the Cernon fault water (contact time - 15 and 7 years) and at the tunnel masonry/argillite interface over 70 m from the Cernon fault (contact time - 125 years). This study shows that: in the absence of water, no significant modification of argillite is observed after 125 years, except for pyrite dissolution and gypsum precipitation; in the presence of water, precipitation of gypsum, recrystallization of mixed-layer clays, neoformation of zeolites and K-feldspars overgrowths are observed. At the concrete/argillite interface near the Cernon fault, important dolomite neoformation and leaching of chlorite and kaolinite occur. These processes are enhanced with contact time, low flow rate and the nature of the concrete (compound cement Portland CEM II 32.5). Evidence for oxidation processes linked to the EDZ (pyrite oxidation, Fe-oxy-hydroxide and gypsum precipitation) is observed.