A 24-year-old female with phenylketonuria (PKU) gives birth to her first child. Although there is no history of PKU in the father's family, the couple could not afford genetic testing of the father or consistent prenatal care. At birth, the child is small, microcephalic, and has elevated blood phenylalanine. What is the most likely explanation for this neonate's symptoms?

  1. A)Father is a carrier of PKU
  2. B)Maternal uniparental disomy
  3. C)Maternal translocation with unbalanced segregation in meiosis I
  4. D)Maternal translocation with unbalanced segregation in meiosis II
  5. E)Phenylalanine was not adequately restricted from the mother's diet during pregnancyGABARITO

Explicação

The correct answer is E. Source: Kaplan USMLE Step 1 QBank — Biochemistry Test 1. Ver explicação completa e trilha adaptativa →

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