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An 11-year-old boy is evaluated for developmental delay, poor school and social performance. Formal IQ testing reveals his IQ to be 50. He has macrocephaly, a long face, and macroorchidism.

What is the most likely cause in this case?

Answer :

The most likely cause is fragile X syndrome, an inherited genetic condition.

How does macrocephaly, long face and macroorchidism relate?

The most likely cause for the presented symptoms of developmental delay, poor school and social performance, macrocephaly, long face, and macroorchidism in the 11-year-old boy is fragile X syndrome. It is an inherited genetic condition caused by an expansion of the CGG trinucleotide repeat in the FMR1 gene on the X chromosome, leading to the silencing of the FMR1 protein that is important for normal cognitive development. Genetic testing can confirm the diagnosis, and supportive care and multidisciplinary interventions can help manage the intellectual disability and associated behavioral and emotional problems.

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