Katherine Littman
Challenging Notions of Normality, Disease, and Risk in Trisomy X
Mentor: Dr. Negar Elmieh
Should we liberally diagnose trisomy X as a disorder? Diagnosis may impart benefits to
individuals, but it also harms through iatrogenesis, genetic discrimination, and the potential for
manifestation of symptoms. Are the benefits of diagnosis inherently medical or can they exist
without testing and labeling? Western sociocultural understandings legitimize trisomy X as a
medicalized state. However, like many “normal” states, trisomy X has the qualities of a risk
factor, and I argue that it is one shade of genotypic variation. Importantly, trisomy X individuals
deserve to know that the medical lens is not the only way to understand their reality.
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