Manejo clínico de niños con síndrome de Down / Clinic management of children with Downïs syndrome

En el manejo clínico de los niños Down, el médico pediatra cumple un rol muy importante junto con otros profesionales del área de salud y educación mejorando significativamente la calidad de vida de estas personas

Estudios citogenéticos en niños chilenos con leucemia linfoblástica aguda / Cytogenetic studies in chilean children with acute lymphoblastic leukemia

Acute lymphoblastic leukemia (ALL) is the most frequent childhood cancer. The leukemic cells of ALL patients show several well defined numeric and structural chromosomal abnormalities which are universally known for its prognostic implications. We studied a group of 44 children with ALL, to investigate the incidence of chromosome aberrations in ALL, its lymphocyte lineage and some clinical feature associations, ans the finding of non previously described aberrations. A high proportion of patients (79.5 per cent) showed chromosomal abnormalities. Most of them had a pseudodiploid karyotype (46 chromosomes), characterized mainly by a translocation. In relation to chromosome number, 27 percent of them were hyperdiploid with more than 50; 9 percent hyperdiploid between 47 - 50 and 7 percent hypodiploid (less than 46). Among structural aberrations found, were the following recurrent translocations: t(1;19), t(4;11), t(9;22) in 6.8 percent, 9.1 percent and 2.3 percent of cases respectively, all related to an early B immunophenotype. Other translocations found, compromised regions 7q22,9p21 -24. Two new translocations in ALL were found: 8(1;5)(q23;q33), apparently balanced and t(13;21)(q14;q22), unbalanced. Other recurrent structural changes found were: deletion (6q), (7q), (7q), (11q), (12q), inversion (3q), isochromosome (7q), maker chromosomes and double minutes. The distribution of chromosome abnormalities in this group of patients was in agreement with previous reports from other investigators