Brain cell chromosome translocation (2q;14q) associated with continuous partial epilepsy.
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Biomedical subjects
Publications and source records attributed to S Carpentier.
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Numerous cardioplegic solutions have been proposed for myocardial protection during open heart surgery. Their effectiveness has been evaluated by hemodynamic, enzymatic and histologic studies, but the cytotoxicity of these solutions has never been assessed. Human fibroblasts and endothelial cells in tissue culture were incubated for 3 hours at 19 degrees C in 12 of the most commonly used cardioplegic solutions. The solutions were then removed and replaced by tissue culture medium at 37 degrees C. The cytotoxicity of the solution was evaluated by staining the cells with trypan blue after 3 hours and 24 hours. The percentage of dead cells varied from 2--21%. Temperature and addition of blood to the various solutions significantly influenced cytotoxicity. Cardioplegic solutions appear to have different toxicity levels when tested in tissue culture.
A balanced reciprocal translocation, t(15;21) (q262;q21) was observed in the mother and maternal grandfather of two patients. The propositus, who received the abnormal chromosome 15 from his mother, is trisomic for the distal part of chromosome 21, and his phenotype is that of classical trisomy 21. His sister, who is trisomic for the proximal part of 21q, is slightly retarded but developmentally normal otherwise.
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Chromosomal preparations obtained from lymphocytes and fibroblasts revealed a minor clone, 47,XX,+14, in a female newborn with multiple malformations. Other types of rearrangement of chromosome 14 are discussed.
A newborn male trisomic for 12p is compared with three other 12p trisomics already reported in the literature, as well as with three patients monosomic for 12p. A "type and countertype" opposition is observed for five characters: in the trisomy, turricephaly, shortness of the nose, protruding anthelix, wide palms, and increased LDH-B activity; in the monosomy, protruding occiput, large nose, hypoplasia of the anthelix, narrow palms, and decreased LDH-B activity.
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