Renatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: A case report of pallister–killian syndrome

A prenatally detected case of a rare mosaic tetrasomy 12p/trisomy 12p is reported, presenting as the well-known accessory isochromosome 12p and a supernumerary single 12p marker in 17/24 and 6/24 clones of cultured amniotic fluid cells, respectively. The chromosomal nature of both marker chromosomes was investigated in cultured amniotic fluid cells by fluorescent in situ hybridization with various probes: the 12-centromeric probes pa12H8 and D12Z3, a whole chromosome 12 paint, and the chromosome 12p-specific paint M28. DNA analysis revealed a maternal origin of the extra 12p material. After counselling, the parents requested termination of pregnancy. Inspection and autopsy of the fetus revealed many of the dysmorphisms and internal structural abnormalities of the Pallister–Killian syndrome.     

A decision tree approach modelling functional group abundance in a pasture ecosystem

Decision tree, one of the data mining approaches, was used to model the relative abundance of five functional groups of plant species, namely high fertility response grasses (HFRG), low fertility tolerance grasses (LFTG), legume, moss and flatweeds in a New Zealand hill-pasture ecosystem using aboveground biomass. The model outputs were integrated with a geographic information system (GIS) to map and validate the predictions on a pasture. The decision tree models clearly revealed the interactions between the functional groups and environmental and management factors, and also indicated the relative importance of these factors in influencing the functional group abundance. Soil Olsen P was the most significant factor influencing the abundance of LFTG and moss, while soil bulk density, slope and annual P fertiliser input were the most significant factors influencing the abundance of legume, HFRG and flatweeds, respectively. Generally, slope and soil Olsen P were the two key factors underlying the patterns of abundance for these five functional groups. For the five functional groups studied, there was an overall predictive accuracy of 75%. Modelling functional group abundance simplified the investigation of the complex interrelationship between species and environment in a pasture ecosystem. The integration of the decision tree with GIS in this study provides a platform to investigate community structure and functional composition for a pasture over space, and thus can be applied as a tool in pasture management.     

S-100 protein and neuron-specific enolase in amniotic fluid as markers of abdominal wall and neural tube defects in the fetus

The aim of this study was to determine whether there is increased leakage of neuron-specific enolase (NSE) and S-100 protein into amniotic fluid in pregnancies with neural tube defects, since both these proteins are produced by neural tissue, and to compare the value of these substances for detecting such defects with that of the more conventional techniques of alpha-fetoprotein (AFP) and acetylcholinesterase (AChE) gel electrophoresis. Amniotic samples from 25 mid-pregnancies (15–17 weeks' gestation) with neural tube defects (14 with open spina bifida and 11 with anencephaly) and from seven mid-pregnancies with abdominal wall defects were compared with a control material consisting of 80 amniotic fluid samples from 80 consecutive mid-pregnancy amniocenteses, with normal karyotypes and AFP concentrations. All of the above cases of abnormalities were primarily detected through increased AFP levels in the amniotic fluid. Amniotic fluid samples from 13 pregnancies with fetuses with autosomal chromosomal abnormalities and seven amniotic fluid samples contaminated with blood were also included in the investigation. It is concluded from the results that the conventional AFP assay combined with AChE gel electrophoresis is the best method for screening amniotic fluid for neural tube defects and defects of the abdominal wall. Neither NSE nor S-100 assay alone proved to be superior for the detection of these cases in mid-trimester amniotic fluid. The S-100 assay, however, could give additional information in cases where AChE gel electrophoresis is not decisive; for example, in samples contaminated with blood.     

Vocal acrobatics in a Chinese frog, <Emphasis Type="Italic">Amolops tormotus</Emphasis>

Although amphibians are highly vocal, they generally emit only a limited number of acoustic communication signals. We report here the extraordinarily rich vocal repertoire of Amolops tormotus, a ranid species in China. These frogs produce countless vocalizations, some of which share features of birdsong or primate calls, e.g., ultrasonic frequency components, multiple upward and downward FM sweeps, and sudden onset and offset of selective harmonic components within a call note. Frame-by-frame video analysis of the frog's calling behavior suggests the presence of two pairs of vocal sacs that may contribute to the remarkable call-note complexity in this species. Electronic supplementary material to this paper can be obtained by using the Springer LINK server located at http://dx.doi.org/10.1007/s00114-002-0335-x.     

Der gegenwärtige Stand des Ozon-Problems

The atmospheric minor constituents relevant to the ozone layer and their photochemistry are discussed. Mechanisms of a possible anthropogenic depletion of the ozone layer due to supersonic aircraft, nuclear weapons, nitrogen fertilizers, and chlorofluoromethanes, and natural depletion processes due to solar and cosmic effects, are reviewed. There have been considerable revisions to predicted ozone depletion rates due to newly determined reaction rate data and more realistic models.