We report on a three-month-old boy with a 46,XY,der(Y)t(Y;7)(p11.32;p15.3) karyotype and growth deficiency, postnatal microcephaly with large fontanels, wide sagittal and metopic sutures, hypertelorism, choanal stenosis, micrognathia, bilateral cryptorchidism, hypospadias, abnormal fingers and toes, and severe developmental delay. FISH studies showed partial trisomy 7p resulting from a de novo unbalanced translocation. The application of molecular probes from the TWIST gene region (7p15.3-p21.1) and probes from the pseudoautosomal region (PAR) demonstrated that the 7p15.3-pter fragment was translocated onto Yp with the breakpoint within approximately 20 kb from the Yp telomere. We discuss the possible role of the TWIST gene in abnormal skull development and suggest that trisomy 7p cases with delayed closure of fontanels can be a result of TWIST gene dosage effect.

In dry etching processes--one of the sources of potential exposure to toxic wastes in the semiconductor industry--complex mixtures of inorganic and organic compounds arise from reactions between feed stock gases (BCl3/Cl2), top layers (aluminium photoresist), and the carrier gas (N2). Two different fractions of the complex mixture--one an ethanolic solution (ES) and the other an insoluble liquid residue (LR)--were examined for acute oral toxicity in rats. Analytical data showed that the ethanol soluble fraction contained mainly inorganic compounds, whereas the residue contained various halogenated hydrocarbons. Neither death nor behavioral changes occurred after oral administration and observation up to 23 days. ES caused a lower mean arterial blood pressure in both sexes, increased P-R-intervals in male rats, and caused some mild biochemical and hematological alterations and changes in relative organ weights compared to the control groups. Exposure to LR influenced food and water intake, and caused a significant decrease in body weights, signs of polyurie, as well as changes in various relative organ weights and biochemical and hematological parameters. The blood pressure of the male animals fell and the heart rates of both sexes decreased.

Male and female Wistar rats were exposed to waste gas arising from a plasma etching process in the semiconductor industries for six hr per day, five days per week, for four weeks in order to characterize subacute organ toxicity and genotoxicity. The waste gas was a complex mixture of different chlorinated hydrocarbons, inorganic by-products, and unused process gases, diluted by room air. Neither death nor behavioral changes occurred after subacute exposure. No significant exposure-related effects on body weight gain, hematology, or cardiovascular parameters were observed. Only slight effects on organ weights and clinical chemistry were seen in the exposed animals. The exposed rats of both sexes showed statistically significant increases in chromosomal aberrations and sister chromatid exchanges in bone marrow cells.

Dry etching processes in semiconductor manufacturing use ionized gases in closed reactors at pressures below 1 torr. Vacuum pump systems that service the reaction chambers are potential sources of exposure to complex mixtures of inorganic and organic compounds. These mixtures consist of unused process gases and process by-products that condense and accumulate in the vacuum pump oils. To evaluate potential hazards of dry etch vacuum equipment, a contaminated vacuum pump oil sample from a BCl3/Cl2 etching process was analyzed. The waste oil was administered by gavage for 14 or 28 days to male and female Wistar rats. Neither death nor behavioral changes occurred after subchronic treatment or during a 14-day posttreatment period. Only slight effects on body weights, clinical chemistry, and hematology data were seen in the exposed animals, although the livers of all waste oil-exposed rats of both sexes showed remarkable hypertrophic degenerations. Genotoxicological investigations were performed through the Ames assay (Salmonella assay) and the Micronucleus assay. The contaminated oil sample caused clear genotoxic effects in both test systems.

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