KROK 1 2011 – Question 138 · KROK (Medicine) · Biology

Examination of a 12-year-old boy with developmental lag revealed achondroplasia: disproportional constitution with evident shortening of upper and lower limbs as a result of growth disorder of epiphyseal cartilages of long tubal bones. This disease is:

  1. A. Inherited, sex-linked
  2. B. Inherited, recessive
  3. C. Acquired
  4. D. Congenital
  5. E. Inherited, dominant
Hint

Think about the gene involved in this skeletal dysplasia and how many mutant copies of it are enough to produce the phenotype.

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