Journal du syndrome de Down et des anomalies chromosomiques
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Abstrait

Down Syndrome: A Disease Insight

Ivan Kanev

One of the most common conditions with immense medical and social costs is Down syndrome (DS). Many phenotypes are associated with DS, including congenital heart defects, leukemia, Alzeihmer's disease, Hirschsprung's disease, etc. DS people are influenced to a different degree by these phenotypes, so it is a crucial challenge to grasp the origin of this difference. In this summary article, we highlight an overview of the diagnosis of DS, DS-associated phenotypes and disease control. In this article, the genes or miRNAs implicated with Alzheimer's disease along with Down syndrome, congenital heart defects (AVSD), leukemia like AMKL and Everything, hypertension and Hirschprung disease are discussed.