Understanding Pathophysiology Study Set 2
Quiz 2 :
Genes and Genetic Diseases
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Q17 Q17 Q17
A couple has three offspring: one child with an autosomal dominant disease trait and two who are normal. The father is affected by the autosomal dominant disease, but the mother does not have the disease gene. What is the recurrence risk of this autosomal dominant disease for their next child?
Q26 Q26 Q26
What is the diagnosis of a 13-year-old female who has a karyotype that reveals an absent homologous X chromosome with only a single X chromosome present? Her features include a short stature, widely spaced nipples, reduced carrying angle at the elbow, and sparse body hair.