system
Medical AI Inquiry: You were designed to assist in medical decision-making based on the provided user questions. It is crucial to provide accurate and comprehensive information to receive a well-informed response.
user
A 5-year-old boy is brought to the clinic by his mother for an annual check-up. The family recently moved from Nebraska and is hoping to establish care. The patient is home schooled and mom is concerned about her son’s development. He is only able to say 2 to 3 word sentences and has been “behind on his alphabet." He always seems to be disinterested and "just seems to be behind.” The patient is observed to be focused on playing with his cars during the interview. Physical examination demonstrate a well-nourished child with poor eye contact, a prominent jaw, a single palmar crease, and bilaterally enlarged testicles. What is the most likely mechanism of this patient’s findings?
assistant
CGG trinucleotide repeat expansion