MarfanSyndrome
At the age of 32, Tracy’s doctor informed her she has Marfan syndrome. Neither of her parents have been diagnosed with Marfan syndrome; however, her maternal grandfather died of an aortic aneurysm at the age of 45. Tracy’s husband Ben does not have MarfanSyndrome on his side of the family. Following, Tracy’s diagnosis her brother, Luke and sister, Elyse go through genetic testing. Unfortunately, Luke tests positive. Elyse tests negative. Luke does not have any children. Elyse is married to Jimmy, and they have two girls. Tracy and Ben have one child that tests negative and another child on the way. What is the chance their unborn child will have Marfan?
Research and summarize the disorder.
Sickle Cell Anemia
Erica and Mark have three healthy children and are pregnant with their fourth. Erica recently discovered from a relative sickle cell anemia runs in their family and is now worried about their unborn child. Her mother’s sister, Betty informs Erica her mother (Matilda) had two siblings that died from complications due to sickle cell anemia. Her mother’s brother, Bert has one child (Bernie) that tests negative for sickle cell anemia.
Research and summarize the disorder
Do a pedigree for this family
TaySach Disease
Frieda and Gabriel are planning on having their first child and are seeking the advice of a genetic counselor after Gabriel discovers his niece, Sarah, now 2 months has been diagnosed with Tay Sachs. Gabriel’s brother, Mike (father of Sarah) and his wife (Allie) do not have Tay Sachs, but wonder if the gene was inherited from Gabe’s parents- Breanna and Joe, or if it had to come from both sets of grandparents. Allie’s parents, Sally and Nick, are deceased so cannot be questions. Draw the pedigree for this family. Research TaySach and write a short summary paragraph.
HEMOPHILIA: Hemophilia has played an important role in Europe’s history, for it suddenly cropped up in the children of Great Britain’s Queen Victoria. Edward, Duke of Kent and Victoria, Princess of Saxe-Coburg wed in the late 1700s. They did not have hemophilia. They gave birth to Victoria (daughter) and four other children without hemophilia. Later Victoria became Queen of England and wed Albert in the mid-1800s. Albert did not have hemophilia. They had seven healthy children, and then their eighth child, Leopold was born with hemophilia. Although, at this time hemophiliacs generally died at a very young age, Leopold lived to marry, Helen. Helen did not have Hemophilia. They have three children. None of them have hemophilia. One of their children, Alice and her new husband have come to you, genetic counselor extraordinaire, to determine the chance of their offspring having hemophilia. Her new husband does not remember any history of hemophilia in his lineage. Note…Alice is a carrier.