While obtaining a genetic history from a female patient, you note that there is a family history of a genetic disease on the maternal side; however, no evidence of symptomatology in the patient or the patient's children, two girls. Which observation can you make related to genetic expression?

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Quizplus · Accepted Answer

Because we have no information about the father and/or paternal side, the other stated options do not apply. If an autosomal dominant expression were present in the family history, the patient would be symptomatic. X-linked recessive traits are more common than X-linked dominant traits and, again, the patient and children are not symptomatic. Although an autosomal recessive expression may be present, we cannot predict that the children will be carriers. There is a 25% chance of being affected.

While Obtaining a Genetic History from a Female Patient, You