In one of my first lectures as a medical student, my instructor flashed the image of a young boy's face on thegi-ant projection screen. The boy's face was longand 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 aftertheir 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.
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