Genetics in Down Syndrome

Down Syndrome (DO) is a genetic syndrome caused by an excess of genetic material on chromosome 21, causing the individual to have three chromosomes 21 instead of two. The general objective of this study was to describe the factors involved in the predisposition of children with Down Syndrome to develop Acute Megacaryoblastic Leukemia (AML-M7). The methodology used is a literature review in narrative format. The SD present congenital characteristics such as mental retardation, muscle weakness, cardiac anomaly, among others. These patients also have an increased risk of developing leukemia. On the other hand, children with SD have a lower risk of developing solid tumors. This leukemogenic condition in SD arouses interest in the study of these pathologies, as experiments suggest that children with trisomy 21 have a 20 times higher chance of developing leukemias than other children, especially LMA-M7. Genetic and molecular studies have shown that this increased likelihood of SD to develop leukaemia is due to the presence of somatic mutations in Gene GATA1.