Question

A 35-year-old woman at 12 weeks' gestation comes to the physician for a routine prenatal visit. Her husband, his brother, and her 6-year-old son have Marfan syndrome. DNA sequencing of FBN1 in her son showed an intronic mutation affecting splicing on one allele. Physical examination shows a uterus consistent in size with a 12-week gestation. Ultrasonography shows a male fetus. The patient asks the physician if her fetus will have a condition similar to that of her husband, her son, and her husband's brother. If the fetus is affected, which of the following is the most likely finding in cells obtained at amniocentesis? A) Abnormal karyotype B) Abnormal sequence of one exon C) Fibrillin mRNA of two different lengths D) Large deletion of 5’ promoter region E) Polymorphisms on the adjacent region of 15q

          A 35-year-old woman at 12 weeks' gestation comes to the physician for a routine prenatal visit. Her husband, his brother, and her 6-year-old son have Marfan syndrome. DNA sequencing of FBN1 in her son showed an intronic mutation affecting splicing on one allele. Physical examination shows a uterus consistent in size with a 12-week gestation. Ultrasonography shows a male fetus. The patient asks the physician if her fetus will have a condition similar to that of her husband, her son, and her husband's brother. If the fetus is affected, which of the following is the most likely finding in cells obtained at amniocentesis?
A) Abnormal karyotype
B) Abnormal sequence of one exon
C) Fibrillin mRNA of two different lengths
D) Large deletion of 5’ promoter region
E) Polymorphisms on the adjacent region of 15q

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