This case correponds to a six-year old child which presented a fragile site in the short arm of the chromosome 1 (region 2, band 2) during a routine cytogenetic study in peripheral blood. Blood culture was repeated in 199 and RPMI 1640 (with and without aphidicolin) media in order to corroborate the prev...
The results of a cytogenetic study performed in 523 patients, who were under 18 years of age, were analyzed in order establish the possible causative role of chromosomal anomalies in the occurrence of congenital malfornations with or withuot mental retardation. Conventional staining techniques and chromo...
Trisomy of chromosome 8 shows a characteristic phenotype which makes clinical diagnosis possible. This abnormality has been attributed to a duplication of the segment 8q22. In this work, it is reported a caseof partial trisomy of chromosome 8 which showed several abnormalities that are similar to those d...
Klinefelter syndrome is caused by a chromosomal anomaly which implies a partial or total duplication of chromosome X in presence of chromosome Y. It is reported the case of a sixmonth old child who was the second child of a non-related couple. The physical exam revealed a general hypotony, hipertelorism,...
Blood trnasfusion is the second most importnatmechanism of transmission of Chagas'disease in both endemic and non-endemic areas. In Latin America, more than 20,000 cases of transmission of the disease, trough blood transfusion, may be occurring. Gentian Violet is currently the only available trypanicidal...
It is reported the case of a child of 9 months of age, who at the time of born, displayed multiple malformations and extensive hypotonia. The cytogenetical analysis revealed a intersticial deletion of the long arm of chromosome 2, karyotype: 46, XY, del(2)(q31,q33). The abnormality was detected by perfor...
To detect the precence of human papillomavirus (HPV) DNA in penis cancer, 28 specimens from infiltrating epidermoid carcinoma were studied by Dot-blot analysis. All samples were from Paraguayan patients ranging in age from 30 to 80 years. Of these 14 (50 percent), contain DNA sequence homology. Nine samp...