In one of my first lectures as a medical student, my instructor flashed the image of a young boy’s face on the giant projection screen. The boy’s face was long and his forehead and ears stuck out. According to our genetics professor, this was the face of fragile X syndrome. I looked at that boy and felt alienated. He didn’t look anything like my brother Carter, who has been the face of fragile X syndrome for me. An hour later, my classmates and I went on to review a hypothetical case of a healthy 25-year-old woman and her husband who sought genetic counseling after their 2-year-old son was diagnosed with global developmental delay. When my classmates heard that the mother also had a brother with intellectual disabilities, they immediately suggested fragile X. The instructor confirmed their diagnosis. Case closed. We moved on to drawing pedigrees.
McGavin CL. More Than “A Case of Fragile X”. JAMA. 2014;311(17):1735. doi:10.1001/jama.2014.3071