GENETICS LAB – ALEXANDER CHACON ARDITE
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Patient Chart
Kayla Emily
Scenario 1 – Pedigree Analysis Scenario 2 – Karyotype
Relationship between 1 and 2
Female carrier and Male
not affected, carrier status
unknown
Gender of Fetus Male
Relationship between 1 and 5 Female carrier and Male
affected Chromosomal Abnormalites Yes
Relationship between 1 and
10
Female carrier and Male
not affected, carrier status
unknown
Chromosomal Combination
Result Down syndrome
Relationship between 6 and 7
Female not affected, carrier
status unknown and Male
not affected, carrier status
unknown
Relationship between 4 and 5
Female not affected, carrier
status unknown and Male
affected
Relationship between 5 and 8 Male affected and Male
affected
Relationship between 8 and
10
Male affected and Male not
affected, carrier status
unknown
Relationship between 1 and 3
Female carrier and Male
not affected, carrier status
unknown
Chances mother is a carrier 50%
Chances Kayla is a carrier 50%
Chances Kayla passes the
syndrome to male child 100%
If Kayla is a carrier, what are
chances of having an affected
child?
50%
If Kayla is not a carrier, what
are chances of having an 1 in 3500
affected child?
Assessment 1. How did you determine the chances that Kayla’s mother is a carrier and the chances that Kayla is a carrier?
Has not been answered yet…
2. How did you determine the chances that Kayla could pass the syndrome to a male child?
Has not been answered yet…
3. How did you determine the chances Kayla could have an affected child if she is a carrier?
Has not been answered yet…
4. How did you determine the chances Kayla could have an affected child if she is not a carrier?
Has not been answered yet…
5. Based on the results of the pedigree, what information might a genetic counselor provide to Kayla?
Has not been answered yet…
6. Which part of the karyotype helped you to determine the gender of Emily’s child?
Has not been answered yet…
7. Which part of the karyotype helped you to determine if there are chromosomal abnormalities?
Has not been answered yet…
8. How does the disorder that results from the chromosomal abnormalities affect body systems?
Has not been answered yet…
9. Based on the results of the karyotype, what information might a genetic counselor provide to Emily?
Has not been answered yet…
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