Case 17: In my family, eight of twenty-four cousins have neurofibromatosis Type 1. Of
the 24 cousins, 3 were diagnosed with Proteus Syndrome (Elephant Man’s Disease). Is
neurofibromatosis similar to Proteus Syndrome? My father’s sister has
neurofibromatosis Type I. What is the chance that our children will have
neurofibromatosis Type I or Proteus Syndrome? (hint: go to-http://gslc.genetics.utah.edu/units/disorders/)
Case 18: Our family has a high incidence of Turner’s syndrome. My mother’s sister has
it as well as one of my sisters. None of these women ever had any children. Our first
daughter has Turner’s syndrome. What is the probability that if we have a second child,
it will have Turner’s syndrome?
Case 19: My brother has Kleinfelter’s Syndrome as well as my cousin. My uncle was
said to be a “super male.” What is a “super male,” and what is the relationship to
Kleinfelter’s Syndrome. What is the probability that we will have a child with
Kleinfelter’s Syndrome?
Case 20: Several children in our family have had Cri du Chat Syndrome. Why is it
called Cri du Chat and can my daughter outgrow this syndrome? What is the probability
of having a second child with this syndrome?
Case 21: My aunt, cousin and first child all have Williams Syndrome. My first child
was diagnosed with a test called FISH. What is this test? Does it have anything to do
with “fishing?” What is the probability that our second child will have inherited this
same disease?
Case 22: Our first son has chronic myelogenous leukemia (CML). His doctor said it
was because of the Philadelphia chromosome. What does this disease have to do with the
Philadelphia chromosome? And, how is the city of “Philadelphia” related? What is the
probability that our second child will have this disease?
Case 23: My son was diagnosed with a Robertsonian translocation. What is this? Why
is it that he has no symptoms? Could he ever have any symptoms? What is the chance
that he could pass this defect to his children? What is the probability that our second
child will have the same disorder?
Case 24: Our son has Fragile X Syndrome. Where did he get this disorder? What is the
probability that is unborn sister will have this same disorder?
Case 25: My sister has Marfan syndrome. The doctor said she was just like “Abraham
Lincoln.” What does that mean? What is the probability that our child will have Marfan
Syndrome?
Case 26: My brother has Duchenne Muscular Dystrophy. I have a cousin who has
Becker Muscular Dystrophy. How are the two related? What is the probability that our
child will have either DMD or BMD?
Case 27: I have hemochromatosis. What is the chance that our son will have
hemochromatosis and why how is our Irish decent related?
Case 28: My grandmother died before the age of 30 from Beta-thalassemia and my
husband’s father currently has the disease. My family is from Greece. Does that have
anything to do with the disease? What is the probability that our child will have the
disease? Does being a carrier or having this disease protect from malaria?
Case 29: My sister has Polycystic Kidney Disease. What is the difference between the
dominant and recessive forms of PKD? What is the probability that our child will have
Polycystic Kidney Disease (ADPKD) or (ARPKD).
Case 30: My son has Prader-Willi Syndrome. How did he get it? What is the difference
between deletion, maternal disomy and an imprinting defect? What are the chances that
our second child will have this disease?
Case 31: My first son has been diagnosed with Angelman’s syndrome. What is it?
How are imprinting defects, deletions, and disomy different? What are the chances that
our second child will have this disorder?