Patient Bios
Kayla· Age: 35· Kayla is seeking genetic counseling for muscular dystrophy.Emily· Age: 40· Emily is seeking karyotype analysisPatient Chart
Please use the below chart for navigation to the tests.
KaylaEmilyScenario 1 – Pedigree Analysis (Page 2)Scenario 2 – Karyotype (Look on Page 5)Relationship between 1 and 2Gender of FetusRelationship between 1 and 5Chromosomal AbnormalitesRelationship between 1 and 10Chromosomal Combination Result??????????Relationship between 6 and 7Relationship between 4 and 5Relationship between 5 and 8Relationship between 8 and 10Relationship between 1 and 3Chances mother is a carrierChances Kayla is a carrierChances Kayla passes the syndrome to male childIf Kayla is a carrier, what are chances of having an affected child?If Kayla is not a carrier, what are chances of having an affected child???????????????Scenario One – Our patient seeks genetic counseling
Kayla has a family history of Duchenne muscular dystrophy (DMD), which is a sex-linked trait. The patient wishes to know her risk of having an affected child. Her grandmother was a known carrier. DMD is an inherited disorder that involves progressive muscle weakness. It affects approximately 1 in 3500 male births worldwide and is inherited in an X-linked recessive pattern.
Click here to learn more about DMD
The following pedigree was drawn up by the genetic counselor. Our patient, Kayla, is #13.
What are the relationships between:
1 and 2 ________________ 1 and 5________________
1 and 10 ________________ 6 and 7_________________
4 and 5 __________________ 5 and 8_________________
8 and 10_______________ 1 and 3__________________
What are the chances her mother was a carrier? What are the chances our patient is a carrier? What are the chances she passes the syndrome to a male child?
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Testing would establish her status as either a carrier or a noncarrier.
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If she is a carrier what are the chance of her having an affected child? If she is not a carrier what are the chance of her having an affected child?
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Scenario Two – Our patient seeks genetic counseling
Emily, a forty year old pregnant woman has an amniocentesis which provides the karyotype below.
Using the karyotype above answer the following questions:
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What is the gender of the fetus? Are there any chromosomal abnormalities? What would this chromosomal combination result in?
Assessment
1. How did you determine the chances that Kayla’s mother is a carrier and the chances that Kayla is a carrier?
2. How did you determine the chances that Kayla could pass the syndrome to a male child?
3. How did you determine the chances Kayla could have an affected child if she is a carrier?
4. How did you determine the chances Kayla could have an affected child if she is not a carrier?
5. Based on the results of the pedigree, what information might a genetic counselor provide to Kayla?
6. Which part of the karyotype helped you to determine the gender of Emily’s child?
7. Which part of the karyotype helped you to determine if there are chromosomal abnormalities?
8. How does the disorder that results from the chromosomal abnormalities affect body systems?
9. Based on the results of the karyotype, what information might a genetic counselor provide to Emily?
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