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Assignment: Genetics Lab

Patient Bios

Kayla

  • Age: 35
  • Kayla is seeking genetic counseling for muscular dystrophy.

Emily

  • Age: 40
  • Emily is seeking karyotype analysis

Patient Chart

Please use the below chart for navigation to the tests.

Kayla

Emily

Scenario 1 - Pedigree Analysis (Page 2)

Scenario 2 - Karyotype (Look on Page 5)

Relationship between 1 and 2

Gender of Fetus

Relationship between 1 and 5

Chromosomal Abnormalites

Relationship between 1 and 10

Chromosomal Combination Result

Relationship between 6 and 7


Relationship between 4 and 5


Relationship between 5 and 8


Relationship between 8 and 10


Relationship between 1 and 3


Chances mother is a carrier


Chances Kayla is a carrier


Chances Kayla passes the syndrome to male child


If 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?


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.

The following pedigree was drawn up by the genetic counselor. Our patient, Kayla, is #13.

1561_Genetic Counselor.png

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?

Testing would establish her status as either a carrier or a noncarrier.

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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