Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q41)

Many authors have suggested that individuals affected by a terminal 1q deletion display a phenotypically definable and recognizable syndrome. In all of the 27 cases reported to date, the breakpoints were at band q42 or distally to it. To our knowledge, we report the first case of a terminal 1q41 deletion. Diagnosis was made prenatally by amniocentesis, following ultrasonographic diagnosis of omphalocele, cerebral ventriculomegaly, and increased nuchal fold thickness in a 19-week female fetus. Multiple facial and extremity features were consistent with the proposed distal 1q deletion syndrome; omphalocele, however, has not been reported previously. The absence of liver herniation into the omphalocele sac in this case supports the previously reported association of this finding with chromosomal anomalies.     

Zentren für Ökosystemforschung

Naturwissenschaften Aktuell

Zentren für Ökosystemforschung     

Gentoxische Substanzen in Wässern

Waste waters with genotoxic potential are produced in various technical processes. Diffuse sources such as traffic and agriculture as well as point sources as mining, power plants, waste and waste water treatment facilities may emit water which shows mutagenic activity in bacteria test systems. A variety of compounds is known as mutagenes but in case studies it was not possible to assign the mutagenic potential of water to specific compounds. The chlorination and ozonation of drinking water may also generate genotoxic and cancerogenic compounds but at present it is not possible to assess the health risk of various drinking water disinfection methods.     

Fluxes of dissolved and particulate calcium in selected tissues of Crassostrea virginica

Rates of calcium incorporation by selected tissues of Crassostrea virginica increased in a step-wise fashion from lowest values among organisms exposed to ambient total calcium concentrations of 45 mg l^-1, intermediate values among oysters exposed to 135, 225, and 315 mg l^-1, to highest rates for oysters exposed to 360 mg l^-1. Although excised visceral mass tissue had highest rates of calcium incorporation relative to mantle, muscle, and both organic and inorganic portions of the shell, mantle tissue appeared to have the most dynamic response to changes in ambient calcium concentrations. Rates of dissolved calcium incorporation from ambient water were approximately two to three orders of magnitude higher than comparable rates from ingested algal food. Behavioral response to concentrations of selected inoic, species in the ambient environment may have been responsible for observed differences in rates of calcium incorporation.     

Atrazine induction of a family 4 cytochrome P450 gene in Chironomus tentans (Diptera: Chironomidae)

Cytochrome P450-dependent microsomal monooxygenase (P450) activity was measured in control and atrazine-exposed third instar midge larvae, Chironomus tentans. Significantly elevated O-demethylase activity was observed in gut homogenates taken from midges exposed to atrazine concentrations from 1 to 10 ppm for 90 h. No significant induction was observed at atrazine concentrations below 1 ppm. A region of a cytochrome P450 family 4 gene was amplified and sequenced from C. tentans larvae. Alignments of inferred amino acid sequences with other insect CYP4 gene homologues indicate a high degree of similarity. Northern blot analysis employing the CYP4 gene fragment as a probe showed an over-expression in C. tentans exposed to atrazine. The results support the previously identified inducibility of cytochrome P450-dependent activity and provide insight into the potential consequences of atrazine exposure to aquatic organisms.