Trescientos cincuenta y nueve pacientes portadores del Síndrome de Down fueron seleccionados entre 39 individuos con la enfermedad que concurrieron al Departamento de Genética del IICS para su estudio citogenético, en un periodo de 10 años. Se describen, distribución por sexo, peso, presencia o ause...
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...