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Questions and Answers
In an autosomal dominant disorder, if one parent is affected by the disorder and the other parent is a carrier, what is the probability that their child will be phenotypically normal?
If both parents are carriers of an autosomal recessive disorder, what is the probability that their child will inherit the disorder?
For an autosomal dominant disorder, if both parents are carriers of the disorder, what is the probability that their child will also be a carrier?
If a parent is homozygous dominant for an autosomal dominant disorder and the other parent is heterozygous, what is the probability that their child will inherit the disorder?
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In a Punnett square for an autosomal recessive disorder where both parents are carriers, what is the probability that they will have a child who is not a carrier?
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For an autosomal dominant disorder, if one parent is asymptomatic and the other parent is affected by the disorder, what is the probability that their child will be a carrier?
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Which genetic disorder is associated with a positive triple screen test on maternal blood followed by amniocentesis?
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What is the karyotype of an individual with Down syndrome?
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Which of the following is NOT an abnormality associated with Down syndrome?
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What is a characteristic appearance of an individual with Down syndrome?
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What developmental delay is commonly seen in individuals with Down syndrome?
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In Punnett Square A, which parent is genotypically and phenotypically normal?
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In Punnett Square B, which parent is a carrier of the disorder?
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What is the probability that a couple, like in Punnett Square A, will produce a son with the disorder?
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In the context of genetic disorders, what does the term 'carrier' refer to?
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What is the probability that a couple, like in Punnett Square B, will produce a daughter who is a carrier of the disorder?
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Which statement accurately represents an autosomal dominant disorder?
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Study Notes
Autosomal Dominant Disorders
- If one parent is affected and the other is a carrier, the probability of their child being phenotypically normal is 50%.
- If both parents are carriers, the probability of their child being a carrier is 50%, and the probability of inheriting the disorder is 25%.
- If one parent is homozygous dominant and the other is heterozygous, the probability of their child inheriting the disorder is 100%.
Autosomal Recessive Disorders
- If both parents are carriers, the probability of their child inheriting the disorder is 25%, and the probability of not being a carrier is 2/3 or approximately 67%.
- In a Punnett square for an autosomal recessive disorder, the probability of having a child who is not a carrier is 2/3 or approximately 67%.
Genetic Disorders
- A positive triple screen test on maternal blood followed by amniocentesis is associated with Down syndrome.
- The karyotype of an individual with Down syndrome is 47, XY or 47, XX.
- Down syndrome is not associated with polydactyly.
- Characteristic appearances of individuals with Down syndrome include almond-shaped eyes, a flat face, and a small nose.
- Developmental delays are commonly seen in individuals with Down syndrome.
Punnett Squares
- In Punnett Square A, the parent that is genotypically and phenotypically normal is the mother (bb).
- In Punnett Square B, the parent that is a carrier of the disorder is the father (Bb).
- The probability that a couple, like in Punnett Square A, will produce a son with the disorder is 25%.
- The probability that a couple, like in Punnett Square B, will produce a daughter who is a carrier of the disorder is 50%.
Genetics Terminology
- A carrier is an individual who is heterozygous for a particular genetic disorder, meaning they have one normal and one mutated allele.
- An autosomal dominant disorder is characterized by a single mutated allele being enough to express the disorder, and each affected individual has a 50% chance of passing the mutated allele to each offspring.
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Description
Test your understanding of Punnett squares and inheritance patterns with this quiz. Determine which parent is affected by an autosomal dominant disorder and calculate the probability of having a child with the disorder. Explore the different combinations of genotypes that can result from a given set of parental genotypes.
