A 25-year-old man with a genetic disorder presents for genetic counseling because he is concerned about the risk that any children he has will have the same disease as himself. Specifically, since childhood he has had difficulty breathing requiring bronchodilators, inhaled corticosteroids, and chest physiotherapy. He has also had diarrhea and malabsorption requiring enzyme replacement therapy. If his wife comes from a population where 1 in 10,000 people are affected by this same disorder, which of the following best represents the likelihood a child would be affected as well?
A0.01%
B2%
C0.5%
D1%
E50%
A 30-year-old man presents to his primary care physician for a routine check-up. During the appointment, he remarks that he has started noticing some thinning and hair loss without other symptoms. The physician reassures him that he is likely experiencing male-pattern baldness and explains that the condition is largely inherited. Specifically he notes that there are multiple genes that are responsible for the condition so it is difficult to predict the timing and development of hair loss. What genetic principle is being illustrated by this scenario?
AUniparental disomy
BPolygenic inheritance
CPleiotropy
DAnticipation
EHeteroplasmy
A 23-year-old woman and her husband come to a genetic counselor because she is concerned about the chance of having an inherited defect if they had a child. Family history reveals no significant family history in her husband; however, her sister had a son who has seizures, failure to thrive, and neurodegeneration. She does not remember the name of the disease but remembers that her nephew had sparse, brittle hair that kinked in odd directions. She does not think that any other members of her family including her sister's husband have had this disorder. If this couple had a son, what is the most likely chance that he would have the same disorder that affected the patient's nephew?
A100%
B12.5%
C25%
D50%
EClose to 0%
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