Question NO. 4
A young boy is being evaluated for developmental delay, mild autism,
and mental retardation. Physical examination reveals the boy to have large,
everted ears and a long face with a large mandible. He is also found to have
macroorchidism (large testes), and extensive workup reveals multiple tandem
repeats of the nucleotide sequence CGG in his DNA. Which one of the
following is the correct diagnosis for this patient?
a. Fragile X syndrome
b. Huntington’s chorea
c. Myotonic dystrophy
d. Spinal-bulbar muscular atrophy
e. Ataxia-telangiectasia
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