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BACKGROUND Pure partial trisomy of chromosome 5q is rare and cases have ranged over the entire region, making it difficult to describe a good phenotypic correlation to the cytogenetic duplication. CASE We present a 4.5-year-old girl with a de novo direct duplication of chromosome 5q15-q23.2. She has moderate developmental delay with lack of speech,(More)
We have developed a procedure for immune selection in an established human lymphoid cell line based on HL-A, the major human histocompatibility locus. After a single brief exposure to selective conditions, HL-A2 variant clones were isolated from an HL-A2/HL-A3 heterozygous line. The variant clones occurred at a frequency of about 1 x 10(-6). The variant(More)
Male rats were exposed to 0, 10 and 130 p.p.m. cadmium administered in 0.5% saline drinking water for 71 days. Biweekly records of ECGs, Hct, body weight and blood levels of cadmium were made. Rats exposed to 130 p.p.m. cadmium showed slower growth rates and declining Hct indicative of acute cadmium poisoning. At the end of the experimental period, carotid(More)
The binding of uniformly modified N3'-->P5' phosphoramidate and stereorandom and stereopure phosphorothioate oligonucleotides (ODN) to cell surface proteins was studied, using both a fibroblast and an epithelial cell line, to assess the effect of different analog backbone types and base composition on cell surface protein binding. Marked differences were(More)
Postequilibrated isolated rat hearts were perfused for 60 min with a standard supporting electrolyte buffer containing one of the following calcium concentrations: 0.9, 1.8, 3.5, or 5.0 mM, either with or without added cadmium. Doses of cadmium which proved to be minimally (0.03 microM Cd)--and maximally (3.0 microM Cd)--effective at 0.9 mM Ca were studied(More)
PURPOSE Risk assessment is an essential component of genetic counseling and testing, and Bayesian analysis plays a central role in complex risk calculations. We previously developed generalizable Bayesian methods to calculate the autosomal recessive disease risk of a fetus when one or no mutation is detected, and another, independent risk factor is present.(More)
A mixed phosphodiester:phosphorothioate oligodeoxynucleotide was used in uptake studies with T15 mouse fibroblast cells. The presence of full-length unlabeled oligomers was identified in both cytoplasmic and nuclear extracts by a method involving gel electrophoresis and electroblotting followed by hybridization with a complementary radiolabeled probe.(More)