A 24-year-old woman with phenylketonuria (PKU) gives birth to her first child. Although there is no history of PKU in the father’s family, the couple

Subject
Obstetrics and Gynaecology
System
Pregnancy, Childbirth & Puerperium

Kathryn

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Jul 29, 2020
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A 24-year-old woman 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?
(A) Father is a carrier of PKU
(B) Maternal translocation with unbalanced segregation in meiosis I
(C) Maternal translocation with unbalanced segregation in meiosis II
(D) Maternal uniparental disomy
(E) Phenylalanine was not adequately restricted from the mother’s diet during pregnancy
 
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