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Performance Task:
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You are a genetic counselor working for a major
health facility. A young couple, Robert and Maria Barone, has made an appointment with you to determine their risk of having a child with
Sickle Cell Anemia. Robert and Maria, who are both negative for Sickle Cell Anemia, gave you the
following information about their respective families during your interview with them.
Robert: Robert's maternal grandmother, Allisa, died suddenly at age 27 of
kidney failure as a complication of Sickle Cell Anemia. She had three children prior to her
death. Robert's mother, Mary, was the oldest child with two younger brothers. Mary was
diagnosed with Sickle Cell Anemia and has been ill on and off all of her life.
Robert's two maternal uncles had no sickle cell symptoms. Robert stated his paternal
grandparents and his father, the youngest of 2 children (the sibling was a sister),
showed no symptoms, although one female paternal cousin had Sickle Cell Anemia diagnosed at age
3.
Maria: Maria said her grandparents on both sides showed no symptoms, but
her mother has Sickle Cell Anemia. Her mother is the oldest of 3 children (two girls and a
boy), and
no one else in her family has the disease. Use the given information to produce a family pedigree and Punette Square
which will help you respond to Robert and Maria's concern. Make a written report of your findings and
explain how you will respond to Robert and Maria, including the percent chances of their having a child
with Sickle Cell Anemia. Also tell them about possible prenatal tests that are available and give them symptoms and
possible treatments for Sickle Cell Anemia.
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Knowledge / Skills:
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Examine the foundations of genetics involving
heredity and inherited traits passed on through generations, understand the
gene-chromosome concept, and apply classical genetic studies (Mendelian
genetics). (s12)
Know the features of genetic patterns such as
sex inheritance and sex linkage and how dominant and recessive traits
explain variations that are hidden in one generation can be expressed in
the next. (s54)
Use expository writing skills in subjects other
than English language arts. (ela58)
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