Distributions and sources of persistent organic pollutants (aliphatic hydrocarbons, PAHs, PCBs and pesticides) in surface sediments of an industrialized urban river (Huveaune), France.

Surface sediments from the Huveaune River were analyzed for n-alkanes, polycyclic aromatic hydrocarbons (PAHs), polychlorinated biphenyls (PCBs), organochlorine and organophosphorous pesticides (OCs and OPs) by using gas chromatography-mass spectrometry (GC-MS). Concentrations of total alkanes ranged from 184 to 26,780 µg·kg(-1) sediment dry weight (dw) with a mean concentration of 6,126 ± 8,006 µg·kg(-1)dw, concentrations of total PAHs ranged from 572 to 4,235 µg·kg(-1)dw with a mean concentration of 1966 ± 1,104 µg·kg(-1) dw, concentrations of total PCB ranged from 2.8 to 435 µg·kg(-1)dw with a mean concentration of 148 ± 164 µg·kg(-1)dw and concentrations of total pesticides ranged from 0.07 to 1.25 µg·kg(-1)dw with a mean concentration of 1.23 ± 1.29 µg·kg(-1)dw. The spatial distribution of POPs reveals that pollutant concentration is relatively higher at the mouth of the river. The molecular indices of specific n-alkanes (CPI, NAR and TAR) and molecular indices of PAHs (Ant/(Ant+Phe), Fl/(Fl+Pyr), BaA/(BaA+Chry), IPyr/(Ipyr+BghiP)) were calculated to evaluate the possible sources of hydrocarbons. These molecular indices suggest mainly pyrolytic inputs which are markedly biogenic. All contaminant levels were also compared with Sediments Quality Guidelines (SQG) showing that the contamination levels in all stations were most of the time lower than their respective SQG. While, for PCBs, five stations (H5, H6, H7, H8 and H9) were higher than their effect range median (ERM) values which may indicate high potential toxicity of the sediment with probable adverse effects to the living biota.

De novo unbalanced t(11q;21q) leading to a partial monosomy 21pter-q22.2 and 11q24-qter in a patient initially diagnosed as monosomy 21.

We describe a patient in whom full monosomy 21 was initially assumed from routine GTG banded karyotyping. Re-examination with chromosome painting demonstrated an unbalanced translocation between the long arms of chromosomes 11 and 21. Fluorescence in situ hybridization (FISH) and microsatellite marker analysis revealed partial monosomy of chromosome 21 (pter-q22.2) and 11 (q24-qter). The patient was prematurely born in the 31st week of gestation and expired 3 days after delivery. She showed multiple minor anomalies, a complex cardio-vascular malformation, intestinal malrotation and cerebellar hypoplasia.