Turner syndrome pedigree chart

GeneticsLab

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Introduction
Genetic diseases are inherited based on DNA, genes, and chromosomes. Genetic testing can identify certain inherited disorders, such as cystic fibrosis, as well as chromosomal abnormalities, such as Down syndrome. Fragile X, Turner syndrome, tay-sachs and hemophilia are all caused by genetic abnormalities. Genetic counselors look at family history, medical history and pregnancy history. Using this information, along with genetic testing, they are able to assess a person, or couple’s, risk factors for a particular genetic disorder or disease. Genetic counseling can take place prior to pregnancy by looking at the parents genes or during pregnancy by using an amniocentesis.

1. NBC Learn Video - Older Dads at Risk of Fathering Children with Autism
Couples with a family history of inherited disorders, those from certain ethnic groups, women exposed to toxins or women over 35 are all at increased risk of passing on genetic abnormalities.

2. NBC Learn Video - Researchers Map DNA of Fetus from Blood and Saliva of Parents
In this lab we will analyze the pedigree chart and karyotype for two patients (Kayla & Emily). A karyotype is a picture of stained chromosomes arranged to show chromosome pairs. Abnormalities in chromosome number or size can be easily identified in a karyotype. Pedigree charts give a symbolic representation of phenotypic (observable) traits through a family. Using a pedigree researchers can trace the pathway of a disease through families.

Go to Bios Go to Chart

Patient Bios
Kayla

· Age: 35

· Kayla is seeking genetic counseling for muscular dystrophy.

Emily

· Age: 40

· Emily is seeking karyotype analysis

GO TO CHA RT

Patient Chart
Please use the below chart for navigation to the tests. Once they are all completed, an "assessment" area will appear below the chart. You will need to fill it out and download the PDF to upload into the course for your assignment.

Kayla

Emily

Scenario 1 - Pedigree Analysis view test

Scenario 2 - Karyotype view test

Relationship between 1 and 2

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Gender of Fetus

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Relationship between 1 and 5

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Chromosomal Abnormalites

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Relationship between 1 and 10

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Chromosomal Combination Result

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Relationship between 6 and 7

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Relationship between 4 and 5

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Relationship between 5 and 8

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Relationship between 8 and 10

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Relationship between 1 and 3

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Chances mother is a carrier

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Chances Kayla is a carrier

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Chances Kayla passes the syndrome to male child

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If Kayla is a carrier, what are chances of having an affected child?

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If Kayla is not a carrier, what are chances of having an affected child?

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Assessment
1. What information might a genetic counselor provide to Kayla?

GeneticsLab

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Introduction
Genetic diseases are inherited based on DNA, genes, and chromosomes. Gen