Honors Anatomy and Physiology
Summer Assignment 2013
Mrs. Sorbello sorbello.j@woodstown.org
In Anatomy and Physiology, we cover the systems of the human body. We also pay close
attention to the diseases and disorders seen within these systems. Today, with the growing
awareness of the role that genetics plays in our society, decision-making requires more information
than ever before. This project uses principles of biology to examine human genetics disorders. You
will choose a genetic disorder case studies listed on my website and complete the project.
Your assignment: You are a genetic counselor. You need to investigate the disease you chose and
prepare a presentation to the family about the disease. Genetics counselors ascribe to a belief in nondirective counseling. That is, they feel that it is their duty to provide all of the information that is
available and desired by a family so that they can make the decisions that are appropriate to them
based on their own cultural, moral, religious, etc. beliefs. Your investigation should include medical
information important for people with this disease so that they can live a healthy and prolonged life.
Your presentation should include the following:
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





Identify what type of genetic disease this is (ex. Autosomal Dominant, Autosomal Recessive,
Sec-linked…) and how it is inherited (genetic, chromosomal???)
Describe the disorder, its characteristics, symptoms and treatment
Draw a pedigree for the family described as best as can be formed if applicable
Is genetic testing available for this disease?
Identify family members who appear to possibly have the disease
Make a prediction of the chances of their offspring having this disease, showing punnett
squares if necessary
Report the ethical and social issues involved in this particular case for the child and the
parents
Requirements:
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

Presentation can be in paper form, poster, power point or any other creative way that covers
the points above. Must be word processed!!
A works cited page must accompany your presentation since you are not an expert in this
field. The citations must be complete.
You must upload all written material to turnitin.com: class Anatomy, Class ID 6511585,
password: anatomyrocks (case sensitive)
DUE DATE: September 5th, the first day of School.
This assignment will count as a Quiz grade.

If late 1 day, 15 points off. It will not be taken any later for credit.
***There will be a test on chapter 24 the first full week of school. You will receive a book the 1st day.
Have a great summer and prepare yourself for an exciting, interesting and challenging year of
Anatomy!
Cystic Fibrosis Case Study
Lucia and David want to have a child. Lucia is concerned, however, because she has a family history of cystic
fibrosis. Cystic fibrosis is a genetic disease that causes a constant thick mucous in the respiratory system. This
condition sets up severe respiratory infections. Cystic fibrosis also causes trouble in digesting some foods
because the pancreas fails to produce the proper enzymes. Lucia worries about passing the disease to her child,
even though she herself does not have it. Lucia and David decide to consult a genetic counselor to understand
the risk of having a child with cystic fibrosis.
Lucia's Siblings:
Bryant is a 23-year-old graduate student in microbiology. He has cystic fibrosis, although he didn't know this
until he as 8 years old. Before that, doctors simply treated him for infection after infection--usually bronchitis or
pneumonia. He was terrified of catching a cold, which could land him in the hospital. Bryant also had
abdominal pains a few hours after eating, and as a result, he was always severely underweight. Doctors noted a
"sensitive stomach" in his chart, lectured his mother on providing proper nutrition, and attributed Bryant's pains
to a nervous disposition.
A brother 2 years younger than Bryant named Will was very healthy; but when a sister Katie was born when
Bryant was 8, a pattern appeared. Katie, like Bryant, battled very frequent respiratory infections. When as a
baby she would scream after eating, doctors at first diagnosed colic and advised switching infant formulas.
Nothing helped. When, at two years of age, Katie weighted only 20 pounds, her pediatrician began to put
together the symptoms with those of her elder brother. Bryant and Katie were the only family members with the
disorder.
Your assignment: You are a genetic counselor. You need to investigate this disease and prepare a
presentation to the family about the disease. Genetics counselors ascribe to a belief in non-directive counseling.
That is, they feel that it is their duty to provide all of the information that is available and desired by a family so
that they can make the decisions that are appropriate to them based on their own cultural, moral, religious, etc.
beliefs.
Your investigation should include medical information important for people with this disease so that they can
live a healthy and prolonged life. This includes:






Identify what type of genetic disease this is and how it is inherited
Describe the disorder, its characteristics, symptoms and treatment
Draw a pedigree for the family described
Identify family members who appear to possibly have the disease
Make a prediction of the chances of their offspring having this disease, showing punnett squares if
necessary
Report the ethical and social issues involved in this particular case for the child and the parents
Marfan Syndrome Case Study
Anne is 16 years old and is a junior in high school. She has read some information in the popular press on
Marfan Syndrome and she and her parents are concerned that Anne might have this syndrome. Her general
physician has referred her to the Genetics Counseling Clinic. Anne is 5' 11", and wears contact lenses to correct
for myopia (nearsightedness). She plays on her school's varsity volleyball and basketball teams. NCAA scouts
are already interested in her playing ability and there is a chance she will be offered college scholarships in both
sports. Her armspan:height ratio is 1.08:1. (In one group of 27 adults, this ratio was 1.006 with standard
deviation = 0.03.)
Siblings:
David: Age 25, married to Jessica, age 25, one daughter named Kristi, age 3 months. David wears glasses, is 6'
3", has long fingers and toes, played basketball and ran track in high school, had some knee problems that
developed during his high school athletic career. Jessica is 5' 8", no glasses, no health complaints other than
occasional migraine headaches. She and David had one miscarried pregnancy in the first trimester before the
birth of Kristi.
Cheryl: Age 14, 5' 9", no glasses, has a slight case of scoliosis. She was born with club feet which responded
well to corrective treatment.
Parents:
Mary: Age 47, 5' 7", wears glasses, has hay fever. Has been diagnosed with carpal tunnel syndrome and mild
diabetes. Had two miscarriages in addition to her three children.
Peter: Age 49, 6' 1", wears glasses, concave chest, high blood pressure, partial lens dislocation in left eye, long
fingers and toes. Has complained about chronic tennis elbow.
Aunts & Uncles:
Mary's Siblings:
Dorothy: Age 46, wears glasses, 5' 3", no major health problems. Has had an ovarian fibroid tumor removed at
age 40. Married and has 4 children.
Ellen: Age 50, 5' 5", high cholesterol, has been diagnosed with irritable bowel syndrome. Unmarried, no
children.
Eric: Age 51, 6' 1", wears reading glasses, has recurrent back problems from a car accident, suffers from
exercise-induced asthma. Is married and has two children from his first marriage and three from his second.
Peter's Siblings:
Frank: Age 55, 6' 4", wears glasses, slight hearing loss in one ear. Was treated for alcoholism, is a heavy
smoker and has developed a chronic cough. Divorced, the father of 2 children.
Alice: Age 56, 5'7", wears glasses, arthritis in left shoulder. Married, has one daughter and a son who was born
with cerebral palsy.
John: Deceased, heart attack at age 46, 6'2", had dislocated lens in right eye. He and his wife had three
children. Their youngest lives with his wife, who is still living, as she is slightly mentally retarded.
Larry: Age 58, 6'3", no glasses, high blood pressure. Divorced twice, lives alone now. Had two children by his
first marriage and one by his second. Is a heavy drinker.
Grandparents
Anne's Maternal Grandparents
Evelyn: Died at age 76 of stroke, 5'4", arthritis in hands and feet, wore reading glasses. Was said to have had as
many as 5 miscarriages.
William: Age 81, no glasses, 5'10", no major health problems. Has a slight limp due to a bad right knee,
occasional rashes, and hemorrhoids.
Anne's Paternal Grandparents
Gloria Age 86, 5'8", high blood pressure, some knee and ankle problems. Is concerned about her constipation.
Wears glasses for distance and reading.
Charlie: Died at age 44 of a heart attack, severe vision problems, described as long and lanky. Contracted polio
at age 26. has been wheelchair dependent since his polio treatment.
Written by Patti Soderberg (soderber@beloit.edu), Beloit College, copyright 19
Your assignment: You are a genetic counselor. You need to investigate this disease and prepare a
presentation to the family about the disease. Genetics counselors ascribe to a belief in non-directive counseling.
That is, they feel that it is their duty to provide all of the information that is available and desired by a family so
that they can make the decisions that are appropriate to them based on their own cultural, moral, religious, etc.
beliefs.
Your investigation should include medical information important for people with this disease so that they can
live a healthy and prolonged life. This includes:






Identify what type of genetic disease this is and how it is inherited
Describe the disorder, its characteristics, symptoms and treatment
Draw a pedigree for the family described
Identify family members who appear to possibly have the disease
Make a prediction of the chances of their offspring having this disease, showing punnett squares if
necessary
Report the ethical and social issues involved in this particular case for the child and the parents
Huntington’s Disease Case Study
Nancy Wexler is a doctor who has studied Huntington's disease for many years. Much of her work has been
conducted in an area of Venezuela where most of the people over 40 already have Huntington's disease. Wexler
estimates that at least half of the other people in the area have the dominant Huntington's gene that will cause
them to have the disease later in life.
Nancy Wexler and her sister have a vested interest in Huntington's disease, since their mother died from the
disease. Nancy's father did not have Huntington's. Nancy has helped to develop a test for Huntington's disease,
and it is now possible to test for the gene before symptoms appear. Nancy is not certain whether she and her
sister should have the test. She has tested many people in Venezuela but has not told them the results of the test.
The reason for not sharing the information is that there is no cure or treatment for Huntington's and knowing the
test results will do nothing to stop the development and progression of the disease.
Your assignment: You are a genetic counselor. You need to investigate this disease and prepare a
presentation to the family about the disease. Genetics counselors ascribe to a belief in non-directive counseling.
That is, they feel that it is their duty to provide all of the information that is available and desired by a family so
that they can make the decisions that are appropriate to them based on their own cultural, moral, religious, etc.
beliefs.
Your investigation should include medical information important for people with this disease so that they can
live a healthy and prolonged life. This includes:






Identify what type of genetic disease this is and how it is inherited
Describe the disorder, its characteristics, symptoms and treatment
Draw a pedigree for the family described
Identify family members who appear to possibly have the disease
Make a prediction of the chances of their offspring having this disease, showing punnett squares if
necessary
Report the ethical and social issues involved in this particular case for the child and the parents
Breast Cancer Case Study
Introduction
Mary Jane Smith is a 42 year old woman who has been diagnosed and treated for breast cancer. Mary Jane has
a married sister, Samantha who has three children--two daughters, Fran and Irene, and a son, Don; all three are
in their teens. Mary Jane and Samantha's mother died of breast cancer at the age of 48.
Mary Jane's doctor is a breast cancer researcher at a local university hospital. She invited Mary Jane to have a
genetic test to determine if her breast cancer was the inheritable type. Test results showed that Mary Jane has a
gene called BRCA-2 which accounts for about 2% of the breast cancer cases diagnosed each year. The BRCA-2
test was not available while Mary Jane and Samantha's mother was alive, so there is no way to tell if Mary Jane
inherited the gene from her mother or her father. Mary Jane has the gene, so there is a 50% chance for each of
her children that they have inherited the gene from her. This gene triggers breast cancer in both males and
females, and 85% of females having the BRCA-2 gene develop cancer. Athough only 1% of breast cancer
occurs in men, most of these cases occur in men with the BRCA-2 gene.
Research on the BRCA-2 gene is very new, and the doctor asks Mary if she can study the family to determine
their risk for this disease. She needs the cooperation of all family members in order to include them in the
study.
Mary Jane knows that early detection is extremely important for survival. She has recommended that all family
members be tested.
Samantha is 40 years old and does not want to be tested. However, her daughters are interested in participating
in the research and knowing their risk for breast cancer. Samantha's son does not have an opinion. If any of the
children has the gene, Samantha will know that they have inherited it from her.
Classroom Scenario written by Sylvia Spengler (SJSpengler@lbl.gov) and Catherine
Pinkas(CIPinkas@lbl.gov) , Ethical, Legal, and Social Issues in Science, Lawrence Berkeley National
Laboratory.
Your assignment: You are a genetic counselor. You need to investigate this disease and prepare a
presentation to the family about the disease. Genetics counselors ascribe to a belief in non-directive counseling.
That is, they feel that it is their duty to provide all of the information that is available and desired by a family so
that they can make the decisions that are appropriate to them based on their own cultural, moral, religious, etc.
beliefs.
Your investigation should include medical information important for people with this disease so that they can
live a healthy and prolonged life. This includes:






Identify what type of genetic disease this is and how it is inherited
Describe the disorder, its characteristics, symptoms and treatment
Draw a pedigree for the family described
Identify family members who appear to possibly have the disease
Make a prediction of the chances of their offspring having this disease, showing punnett squares if
necessary
Report the ethical and social issues involved in this particular case for the child and the parents
Fragile X Case Study
Darcy was learning disabled with an IQ at the lowest end of normal. She finished high school, married, and
started a family. Her first son Sly was healthy.
When Sly was two years old, Darcy and David had Barry. He was developmentally delayed, not reaching
milestones such as sitting and standing when others his age would. He did not respond to stimulation as a
typically curious infant or toddler would. Odd symptoms included a long face with coarse features, lopsided
large ears, and large testicles.
At Barry's one year check-up, the pediatrician asked if any family members were mentally retarded or other
children developmentally delayed. Darcy mentioned her sister Marcy's 10-month-old son Joseph who was not
yet sitting.
They physician told them that he thought Barry might have Fragile X syndrome, the most common form of
inherited mental retardation.
Your assignment: You are a genetic counselor. You need to investigate this disease and prepare a
presentation to the family about the disease. Genetics counselors ascribe to a belief in non-directive counseling.
That is, they feel that it is their duty to provide all of the information that is available and desired by a family so
that they can make the decisions that are appropriate to them based on their own cultural, moral, religious, etc.
beliefs.
Your investigation should include medical information important for people with this disease so that they can
live a healthy and prolonged life. This includes:






Identify what type of genetic disease this is and how it is inherited
Describe the disorder, its characteristics, symptoms and treatment
Draw a pedigree for the family described
Identify family members who appear to possibly have the disease
Make a prediction of the chances of their offspring having this disease, showing punnett squares if
necessary
Report the ethical and social issues involved in this particular case for the child and the parents
Hemophilia Case Study
Joanna is 28 years old and is thinking about starting a family. She is concerned because her brother and a cousin
on her mother's side have hemophilia A.
In the 1980's Joanna had become convinced that when she became pregnant, she would have prenatal diagnosis
so that she could discontinue the pregnancy if the fetus had inherited hemophilia. She had based this decision on
the anxiety she felt that her brother might contract AIDS through the factor VIII gene product clotting factor
that he often received. According to the National Hemophilia Foundation, a person with severe hemophilia
might encounter the blood of 100,000 people in just one year by receiving donated clotting factor.
In 1993, however, a form of factor VIII produced with recombinant DNA technology became available, making
treatment much safer. The new clotting factor can, also, be given preventively, greatly improving the quality of
life for those with hemophilia. Joanna's conviction to avoid having an affected child began to change. But she
still wants to know whether or not she is a carrier.
Your assignment: You are a genetic counselor. You need to investigate this disease and prepare a
presentation to the family about the disease. Genetics counselors ascribe to a belief in non-directive counseling.
That is, they feel that it is their duty to provide all of the information that is available and desired by a family so
that they can make the decisions that are appropriate to them based on their own cultural, moral, religious, etc.
beliefs.
Your investigation should include medical information important for people with this disease so that they can
live a healthy and prolonged life. This includes:






Identify what type of genetic disease this is and how it is inherited
Describe the disorder, its characteristics, symptoms and treatment
Draw a pedigree for the family described
Identify family members who appear to possibly have the disease
Make a prediction of the chances of their offspring having this disease, showing punnett squares if
necessary
Report the ethical and social issues involved in this particular case for the child and the parents
Tourette Syndrome Case Study
Mike and Carrie Riley had always attributed to simple mischievousness the fact that four of their six children
were considered troublemakers in school. Greg and Ken had the annoying habit of often repeating what was
said to them, and both boys had been punished for suddenly yelling out obscenities in school. Alicia and Kate
didn't yell, but they just could not sit still in school, always fidgeting, jerking their heads, blinking, and
grimacing. So far, Joe and Cindy had no such mannerisms. Since their father Mike and his mother Rita also
made these movements, everyone thought that the children had just picked up their father and grandmother's
behavioral quirks from watching them.
Mike's niece and nephew, Edie and Steve, children of his sister Suzanne and her husband Adam, are generally
healthy, but have peculiar habits. Edie takes about twenty showers a day and washers her hands dozens of times
a day. Steve has dyslexia and also has great difficulty solving mathematical problems, such as balancing the
checkbook and comparative shopping at the supermarket. Their third child Jenny is only two years old, and, so
far, her behavior is normal.
Carrie's sister Vicki is in medical school. When she learns about Tourette syndrome, she immediately thinks of
her troublesome nieces and nephews.
Your assignment: You are a genetic counselor. You need to investigate this disease and prepare a
presentation to the family about the disease. Genetics counselors ascribe to a belief in non-directive counseling.
That is, they feel that it is their duty to provide all of the information that is available and desired by a family so
that they can make the decisions that are appropriate to them based on their own cultural, moral, religious, etc.
beliefs.
Your investigation should include medical information important for people with this disease so that they can
live a healthy and prolonged life. This includes:






Identify what type of genetic disease this is and how it is inherited
Describe the disorder, its characteristics, symptoms and treatment
Draw a pedigree for the family described
Identify family members who appear to possibly have the disease
Make a prediction of the chances of their offspring having this disease, showing punnett squares if
necessary
Report the ethical and social issues involved in this particular case for the child and the parents
Sickle Cell Anemia Case Study
Two graduate students travel to Central America to conduct research on the evolution, ecology and genetics of
wild corn, teosinte. While in Guatamala, one student, Maria Staiti, 4 months pregnant, becomes dehydrated
because of the travel and requires hospitalization. Another student, Derrick Hernandez contracts malaria for
which he is treated. In hospital, Maria learns she is a sickle cell carrier. Derrick will be able to continue his field
research on ecology and evolution of teosinte and Zea. He collects seeds for Maria's plant breeding work as
well.
Back home, Maria consults with sickle cell specialists and learns more about sickle cell trait. Maria's husband
learns that he, too is a carrier of sickle cell, and they seek genetic counseling for themselves and their baby.
Family histories, pedigree development, and reflection on the counseling session are included. They must
decide whether to do prenatal testing and about the options for that testing. They have many questions about
sickle cell trait and disease, and what the possibilities are for their child.
Classroom Scenario written by Margaret Waterman, Ph.D. (mwaterma@warren.med.harvard.edu), Harvard
Medical School.
Your assignment: You are a genetic counselor. You need to investigate this disease and prepare a
presentation to the family about the disease. Genetics counselors ascribe to a belief in non-directive counseling.
That is, they feel that it is their duty to provide all of the information that is available and desired by a family so
that they can make the decisions that are appropriate to them based on their own cultural, moral, religious, etc.
beliefs.
Your investigation should include medical information important for people with this disease so that they can
live a healthy and prolonged life. This includes:






Identify what type of genetic disease this is and how it is inherited
Describe the disorder, its characteristics, symptoms and treatment
Draw a pedigree for the family described
Identify family members who appear to possibly have the disease
Make a prediction of the chances of their offspring having this disease, showing punnett squares if
necessary
Report the ethical and social issues involved in this particular case for the child and the parents