Biochemistry

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1887.16 A young couple is seeking genetic counseling following their third spontaneous pregnancy loss. Autopsy of each lost fetus has revealed findings like those in the photo shown. Laboratory testing on the parents is remarkable for the following: Mother: Hgb 10.8 g/dL Hct 32% MCV 71 fL Father: Hgb 11.7 g/dL Hct 34% MCV 72 fL Which of the following fetal genetic abnormalities is responsible for the recurrent pregnancy loss?

Chinese

1575.13 A 17-year-old female, who is pregnant for the first time, presents to the emergency department in active labor. She is fully dilated and effaced, with contractions occurring every 2 to 3 minutes. She has not received any prenatal care and estimates that she is at 38 weeks, according to the date of her last menstrual period. Forty-five minutes later, a boy is delivered vaginally without complications. The neonate's Apgar scores at 1 minute and 5 minutes are 7 and 9, respectively. However, the pediatric team notices that both of the infant's hips are dislocated. The bilateral shoulder and elbow joints appear to be restricted in movement. The corneas appear cloudy bilaterally, and the infant's head is bulging, with the anterior aspect larger than the posterior. His nose appears short and flat, and his neck veins appear to be bulging. Which of the following organelles is the location at which the dysfunctional enzyme in this neonate's disorder normally acts to phosphorylate proteins?

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