Dr. __________________________________ Genetic Conditions, Pedigrees, and Counseling Project
MEDICAL LOG
You received this letter last week and have agreed to provide your services to the family as a genetic counselor:
1234 N. South Avenue
Eastwest Town, WI 54321
(414) 555-9238
Dear Dr. _____________________,
Your name was recommended to me through the hospital that my family is
affiliated with. Since I have heard many good things about you as a Genetic
Counselor, I was hoping that you would be willing to take on my family’s case.
My significant other and I were recently married two years ago, and we are
ready to have a child. However, a certain genetic condition runs in our family, and
we are concerned that if we have a child, he or she will have the condition as well.
We decided to contact you and see if you can help us determine our family genetic
history as well as provide some advice as to whether we should have a child or not. I
realize that this decision is entirely up to us, but we would like to hear what you have
to say from a medical standpoint.
Please consider helping my family. You may contact me anytime and let me
know when I can set up an appointment.
Thank you very much!
You set up three separate appointments to meet with the family. This is when they are coming in to talk to you
and you need to be ready to present your information to them:

Appointment 1: You will research the genetic condition that runs in the family and create a summary sheet about it.

Appointment 2: You will chart the family’s genetic history in a pedigree.

Appointment 3: You will use the summary sheet and pedigree to counsel the family about the chances of the child having the
condition.
You must be ready to place the complete packet of information into the family’s medical file on:
______________________ (THE WHOLE PROJECT IS DUE ON THIS DATE)
NOTE: PLAGIARISM IS NOT ACCEPTABLE. PLAGIARISM FOUND IN ANY PART OF THE
PROJECT WILL RESULT IN A ZERO ON THAT PART. DO NOT COPY/PASTE INFO AND
PASS IT OFF AS YOUR OWN!
Work Hard. Get Smart.
Circle which genetic condition you are researching (one person per condition):
* = No outward physical defects related to the condition. If you choose one of these genetic conditions, you will need to find a picture of
something related to the condition rather than a picture of someone who has it.
Waardenburg Syndrome
Sickle Cell Anemia*
Marfan Syndrome
Color Blindness: Red-Green*
Color Blindness: Blue-Yellow*
Werner Syndrome
Huntington Disease
Lenz Microphthalmia Syndrome
Noonan Syndrome
Muscular Dystrophy: Duchenne
Neurofibromatosis: Type I
Tay-Sachs Disease
Achondroplasia
Nail-patella Syndrome
Maple Syrup Urine Disease*
Cystic Fibrosis*
Cherubism
Achromatopsia
Cornelia de Lange Syndrome
Bloom Syndrome
Pachyonychia Congenita
Phenylketonuria (PKU)*
Tuberous Sclerosis
Pallister-Hall Syndrome
Treacher Collins Syndrome
Fragile X Syndrome
Feingold Syndrome
Go to this website to gather the majority of your information: http://ghr.nlm.nih.gov/BrowseConditions.
Appointment 1: Summary Sheet
Create a summary sheet to briefly explain the genetic condition to the family. This summary sheet must be typed,
in bullet (not paragraph) format, and contain all of the information listed below. DO NOT copy/paste right off
of the website.



Titles
o Somewhere at the top of the page, include your name as “Dr. _______”
o Title the page with the name of the genetic condition that you are researching
Questions: Use the following headings. Using bullets, place the answers under the headings.
o SIGNS AND SYMPTOMS
What are the signs and symptoms of the genetic condition?
o HOW COMMON IS IT?
Statistically, how common is the genetic condition? This means you should have #s in your answer!
If applicable, is it more common in men, women, or a certain ethnic group?
o GENE(S) OF RELEVANCE
What gene(s) is/are of relevance?
o HOW IT IS INHERITED
Is it autosomal dominant, autosomal recessive,sex-linked dominant, or sex-linked recessive? You
shouldn’t have anything else other than one of those four options!
o DIAGNOSIS
What are some tests/ways to diagnose the condition? (You may have to look at other sites)
o TREATMENT
Is the condition curable? Is the condition treatable? (You may have to look at other websites)
o OTHER
Give me 3 other interesting facts about the condition (You may have to look at other websites)
Picture: go to Google or another search engine and find a picture of someone who has the genetic condition.
If you chose a condition with a *, remember, you won’t be able to find a picture of someone who has it.
Instead, find a picture of something RELEVANT to the condition.
YOU MAY USE THIS CHECKLIST TO MAKE SURE YOU HAVE EVERYTHING YOU NEED:
Summary Sheet (extra points available for making the summary sheet look fancy)
__ It’s typed
__ How common it is
__ Fact 1
__ Proper format (headings + bullets)
__ Genes of relevance
__ Fact 2
__ Your name (Dr. __)
__ Pattern of inheritance
__ Fact 3
__ Condition name in title
__ Tests/ways to diagnose
__ Relevant picture
__ Signs/symptoms
__ Treatable?
__ No plagiarism!
Work Hard. Get Smart.
Appointment 2: Construct a Pedigree
You are now going to use information you gathered about the genetic condition to construct a pedigree for the
family you are counseling. Follow these steps to correctly construct your pedigree—you may want to do it in
pencil first. If you need help, make sure you ask!
1. FORMAT: Grab a blank piece of paper—NO LINES—and turn it in the landscape (the long
way/sideways) direction.
2. TITLES: At the top, write:
a. The name of the genetic condition
b. The last name of the family you are counseling (make a last name up!)
c. How the condition is inherited (autosomal dominant, autosomal recessive, sex-linked dominant,
or sex-linked recessive)
3. KEY: On the side of the paper, make a key. Include how you represent:
a. The meaning of the symbols you are going to use (and ONLY the ones you use)
b. What the different shadings mean
4. GENERATION 1: Begin to make your pedigree. Somewhere near the top/middle of the page, make a
circle (female) and a square (male) joined by a horizontal marriage line. These are the grandparents of
your family.
a. Provide a name for each person under their circle/square.
b. Either on the marriage line or off to the side (at the same level as the grandparents), write
“Generation 1.”
c. Choose a letter to represent the alleles for the condition. For example, if you choose Tay Sachs,
you might choose the letter T/t. Under each person’s name, write their genotype (make this up for
each person!).
d. Based on the genotypes you give each person, shade them in accordingly.
e. Create a Punnett Square using the alleles of the couple you just made to determine the probability
of their children having the condition. Write out the probabilities of every possible genotype of
their children.
f. ATTACH YOUR PUNNETT SQUARES AS A SEPARATE SHEET OF PAPER. Label
them as 4e, 5e, and 6e.
5. GENERATION 2: Use a vertical line between your grandma/grandpa to drop down to the next
generation. Make branches for their children.
a. Provide a name for each person under their circle/square.
b. Either on the sibling line or off to the side (at the same level as all the siblings), write “Generation
2.”
c. Using the genetic probabilities you calculated in part 4e, write the genotypes of each person
under their name and shade each person appropriately. Example: if your Punnett Square from step 4e
gives you genotypes Tt (50%) and TT (50%), no one in Generation 2 should have the genotype tt.
d. At minimum one person from Generation 2 needs to get married. Connect the person and their
spouse by a solid horizontal line. Remember to name the spouse, provide their genotype (they
married in, so their genotype can be whatever you want), and shade them accordingly.
e. For every married couple (with children) in the 2nd generation, create a Punnett Square with their
alleles to determine the probability of their children having the condition. Like before, write out
the possible probabilities of each genotype.
Work Hard. Get Smart.
6. GENERATION 3: Use a vertical line between the married couples from Generation 2 to drop down to the
next generation. Make branches for their children.
a. Provide a name for each person under their circle/square.
b. Either on the sibling line or off to the side (at the same level as all the siblings), write “Generation
3.”
c. Using the genetic probabilities you calculated in part 5e, write the genotypes of each person
under their name and shade each person appropriately.
d. At minimum one person from Generation 3 needs to get married. Connect the person and their
spouse by a solid horizontal line. Remember to name the spouse. ANYONE WHO MARRIES
IN AT THIS LEVEL MUST BE HETEROZYGOUS. Write each person’s genotype and shade
them in as appropriate. (exception: if you have a sex-linked disorder and the person marrying in is a
male, he should HAVE the disorder.)
e. Choose the married couple (someone from the family + the heterozygote) and create a Punnett
Square with their alleles to determine the probability of their children (the fourth generation)
having the condition. THIS IS THE COUPLE YOU ARE GOING TO GENETICALLY
COUNSEL AS TO HOW LIKELY THEIR CHILD IS TO HAVE THE CONDITION!
7. EXTRA CREDIT OPTIONS:
a. You can earn extra credit points for making your pedigree on a computer. Good programs to do
this in include Paint and PowerPoint.
b. You can earn extra credit points for making more than 3 generations, but the maximum is 5. If
you do 4 or 5 generations, make sure you provide a Punnett Square for every couple that has
children. Also, instead of genetically counseling someone from your 3rd generation, you’ll just
choose a married couple from your final generation. Make sure that whoever marries in at this
level is a heterozygote of the condition!
Use this checklist to make sure you have everything!
Pedigree (extra points available for neatness if hand-drawn or for typing this part- try Paint or PowerPoint)
__ It’s neat
__ It’s on 8 ½ x 11 paper (or larger)
__ The paper has no lines
__ In title: condition name
__ In title: pattern of inheritance
__ In title: last name of family
__ Key: male vs female
__ Key: shading
__ Key: other symbols used
__ 3 minimum generations
__ 5 maximum generations
__ marriage at each level
__ family to counsel- one is carrier
__ Label: Generation #
__ Label: People’s names
__ Label: People’s genotypes
__ Proper shading, symbols, lines
__ Punnett Squares
__ Percents of genotypes
Work Hard. Get Smart.
Appointment 3: Genetic Counseling
Now it is time to use the information you gathered about the genetic condition and the family’s genetic
history to counsel the family about having a child.
Type up this Genetic Counseling Form with the same headings and information listed below. Points will
be lost for not following this format.
GENETIC CONDITION
HOW IT IS INHERITED (Autosomal Dominant, etc)
THE LAST NAME OF THE FAMILY ON THE PEDIGREE
Mother: _____(her name)_______  use the 3rd generation mother you are genetically counseling
Her genotype
Her phenotype
Father: ______(his name)_________ use the 3rd generation father you are genetically counseling
His genotype
His phenotype
Probability of passing the condition on:
Here, draw the Punnett Square for the mother and father you are genetically counseling. You drew this on
your Pedigree already, so you can re-copy it here. Also, write the percentages of each possible genotype
and phenotype.
Counseling: minimum of 200 words!
Here, think about the symptoms and the fatality of the genetic condition. Take a look at how high the
chances are of the potential child having the condition. Make a decision using these factors and anything
else you think is relevant: would you suggest that the couple should or should not have a child? Explain
why or why not. Write this like you are writing it to the family—that means it’s ok to say “I” and “you.”
Use this checklist to make sure you have everything that you need!
Genetic Counseling (extra points available for creativity)
__ It’s typed
__ Uses specific format
__ In title: family name
__ In title: genetic condition
__ In title: pattern of inheritance
__ Counseling – 200 words
__ Mother’s name, phenotype, genotype
__ Father’s name, phenotype, genotype
__ Punnett Square
__ %s for possible genotypes/phenotypes
__ Counseling—explained well
When you turn in the project (the whole medical record), staple Appointments 1, 2, 3, and Punnett
Squares from your Pedigree together (the summary sheet, pedigree, and genetic counseling sheet,
Punnett Squares).
Work Hard. Get Smart.
Work Hard. Get Smart.