Trisomy 12 mosaicism in amniocytes and dysmorphic child despite normal chromosomes in fetal blood sample

Trisomy 12 mosaicism (44 per cent) was detected prenatally in cultured amniocytes. A cordocentesis was performed to confirm the result. Only normal cells were found in the fetal blood sample. The fetus was estimated to be at a low risk of having a chromosomal abnormality and the pregnancy continued. Eight days after birth, a congenital heart defect was detected in the child. Several dysmorphic features were also evident. Further karyotyping of different tissues revealed normal blood and urinary cells but trisomic cells in the placenta (100 per cent) and in skin fibroblasts (25 per cent). The child died at 5 weeks of age. In this case, the fetal blood sample failed to reveal the real chromosome constitution of the fetus.     

Impact of Climate and Land Use Change on Streamflow and Sediment Yield in a Snow‐Dominated Semiarid Mountainous Watershed

This study investigates the impact of climate and land use change on the magnitude and timing of streamflow and sediment yield in a snow‐dominated mountainous watershed in Salt Lake County, Utah using a scenario approach and the Hydrological Simulation Program — FORTRAN model for the 2040s (year 2035–2044) and 2090s (year 2085–2094). The climate scenarios were statistically and dynamically downscaled from global climate models. Land use and land cover (LULC) changes were estimated in two ways — from a regional planning scenario and from a deterministic model. Results indicate the mean daily streamflow in the Jordan River watershed will increase by an amount ranging from 11.2% to 14.5% in the 2040s and from 6.8% to 15.3% in the 2090s. The respective increases in sediment load in the 2040s and 2090s is projected to be 6.7% and 39.7% in the canyons and about 7.4% to 14.2% in the Jordan valley. The historical 50th percentile timing of streamflow and sediment load is projected to be shifted earlier by three to four weeks by mid‐century and four to eight weeks by late‐century. The projected streamflow and sediment load results establish a nonlinear relationship with each other and are highly sensitive to projected climate change. The predicted changes in streamflow and sediment yield will have implications for water supply, flood control and stormwater management.