Negotiating blame and responsibility in the context of a “de novo” mutation

摘要: This article examines the implications for parents and family members when a child is diagnosed with genetic syndrome. In particular, it describes how practices of understanding are shaped syndrome occurs “de novo,” that is, has not been inherited from either parent where there no history. Despite significant body research exploring social disease diagnostic technologies, sociological understandings de novo mutation considerably limited. draws on semi-structured interviews conducted 23 children 22q11 deletion syndrome, associated high rates cases. Three themes were identified: “lay” genetics, making connections gatekeeping. Overall, this articulates confirms enduring significance contextualizing health illness.