Which part of the karyotype helped you to determine if there are chromosomal abnormalities?

GENETICS LAB – ALEXANDER CHACON ARDITE

This is where introductory text sould go about what they need to do with this pdf, like ‘You need to upload this PDF into your course

as part of your assignment.’

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…