Genetics

Question 1

Patient is a M that has learning difficulties, hyperactivity, inattentiveness, poor eye contact, and aggression. Family medical history includes other men in the family who have learning disabilities. Physical examination shows long face, frontal bossing, large ears and jaw, dental crowding, and strabismus. Examination of the genitals shows increased testicular volume. What is the diagnosis? What is the incidence of this disorder?

Answer 1

Fragile X syndrome

1:2500 to 3700 in males