As part of an orientation to a genetic counseling practice, a group of medical students are differentiating between autosomal recessive disorders and autosomal dominant disorders. Which of the following statements is true of autosomal recessive disorders?
A)
They can manifest when present in one or both gene pairs.
B)
There is a one in two chance of an affected child in each pregnancy with an affected mother.
C)
They tend to have a more uniform symptomatology than autosomal dominant disorders.
D)
The associated disorders are usually attributable to abnormalities in structural proteins.
Ans:
C
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Autosomal recessive disorders tend to have a more uniform symptomology than autosomal dominant disorders. Their incidence is dependent on both members of the gene pair being affected, and there is a one in four risk of an affected child with each pregnancy. The associated disorders are usually attributable to enzyme deficiencies.
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