You have been asked to take on the role of assistant to a genetic counselor. You
have been asked to create an informational display which illustrates a particular
genetic disorder resulting from a chromosomal abnormality that may be detected
through genetic testing. In order to complete this task, you will first need to
research the disorder, and then create a brochure to be used in a genetic
counseling center. This brochure will be given to prospective parents to help
explain about specific disorders caused by chromosomal abnormalities that have
been displayed by the mother's karyotype.
You may use the Web resources listed below to find the information that you will
need. You may also visit any search engine and type in the chromosomal disorder
for your brochure research. There are many sites for most of the genetic disorders.
You can choose from the following disorders:
Achondroplasia Fabry's Disease
Achromatopsia Fragile X Syndrome
Aicardi Syndrome Friedreich's Ataxia
Alpha-1 Antitrypsin Deficiency Hemophilia
Angelman Syndrome Huntington's Disease
Canavan disease Klinefelter's Syndrome
Cri Du Chat Syndrome Kostmann's Syndrome
Cystic Fibrosis Marfan syndrome
Cystinuria Moebius Syndrome
Diabetes Nail Patella Syndrome
Downs syndrome Narcolepsy
Duchenne Muscular Dystrophy Neurofibromatosis
Prader-Willi Syndrome Tay-Sachs Disease
Progeria Thrombocytopenia Absent Radius
Proteus Syndrome (TAR)
Retinoblastoma Tourette’s Syndrome
Rett Syndrome Trisomy
Sickle Cell Turner's Syndrome
Sturge-Weber Syndrome Waardenburg Syndrome
Tay-Sachs Disease Wilson's Disease
Once you have completed your research, make a pamphlet (brochure) presenting this
information, keeping in mind that your audience will be of prospective parents who
need to know about your disorder because it may affect their baby and that they
probably have never heard of this disorder before.
You may create your brochure using construction paper and art supplies, or you may
use desktop publishing software such as Microsoft Publisher, Print Shop, or other
available software. Include pictures, graphs or charts to help explain your information.
The rubric for the project is included below.
YOUR BROCHURE MUST INCLUDE:
• What are the scientific and common names for this disorder?
• Who discovered it and when (How did the disease/syndrome get its name?)
• How is this disorder inherited? (What gene or chromosome it is on?)
• What are the symptoms of the disorder? (How does this disease affect the
body? What are some of the effects?)
• What are the current treatments for this disorder?
• How common is this disorder? (How many people have it?)
• Is there help available for families with this disorder?
• How is it diagnosed?
• Who should have the test done? (What gender or race does it tend to
• What is the procedure for the test?
• What exactly do the test results mean? Does the test indicate probabilities
or certainties of having offspring with this disorder?
• Why is this disorder considered a genetic disorder?
o NOVA: Manipulating Genes
o Evolution: Babies by Design
o Quest Diagnostics: Prenatal Genetic Testing: Cystic Fibrosis
o Quest Diagnostics: Prenatal Genetic Testing: Sickle Cell
o Quest Diagnostics: Prenatal Genetic Testing: Chromosomal Abnormalities (Downs Syndrome)
United Kingdom Department of Health: Prenatal Genetic Testing
o The DNA Files: Prenatal Genetic Testing: Topic-in-Depth
o National Human Genome Research Institute
Annotation: This site includes information on learning about genetics, various types of genetic
disorders, different tests for genetic disorders, and the role of the genetic counselor.
o Cytogenetics and Chromosomal Disorders
Annotation: This site contains information about chromosomal disorders.
o Genetic Alliance
Annotation: This site can help students locate a genetic counselor.
o Human Chromosomal Disorders
Annotation: Site contains links to different types of chromosomal disorders.
o Your Genes, Your Health
o Chronic Illness: Directory
o TeensHealth: Diseases and Conditions (see Genetic Conditions)
o KidsHealth: Health Problems (see Birth Defects and Genetic Problems)
o Yahoo Genetic Disorders
o Canavan Foundation
o Chromosomal Disorders
Annotation: This site contains information on chromosomal disorders.
Cytogenetics Brochure Rubric
After learning about some genetic problems, including chromosomal abnormalities, you
are to choose one genetic disorder or syndrome and research that disorder or syndrome.
You are going to create a brochure or pamphlet that could be given to a parent who is
seeking genetic counseling dealing with your researched disorder or syndrome.
Compose your pamphlet as if it will be distributed by the genetic counselors around the
Your pamphlet must include the following: (points shown for each requirement of the
Cover with some graphic and name of disorder ______/10
General description of the disorder ______/10
Possible causes of the disorder ______/10
Behavior of the person exhibiting the disorder ______/10
Possible Web sites or groups to help parents with children who ______/10
have the disorder
Illustrated karyotype for the person with the researched disorder ______/10
Advertisement that includes a product that could assist someone ______/10
who has the disorder
Brochures will be shared with classmates. You will share with your peers time on the due
date of the assignment. The peers in your group will share their brochures also. The sharing
portion is not to be graded, but merely to allow students to “show-off” their hard work.
Please write your name on this description/rubric sheet and attach it to your brochure when
handing in assignment.
You may want to visit www.nhgri.gov/10001191#6 to find out more about a genetic counselor. This site
will illustrate how complex the role of the genetic counselor is.
*Graphic at top taken from Microsoft Office Clip Art Gallery (February 23, 2004).