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
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 for the next three weeks will be to investigate this
disease and prepare a "story book" about the disease. The genetics
counseling community ascribes 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 might include:
- a pedigree for the family described
- family members who appear to possibly have the disease
- a prediction of the chances of their offspring having this
- the ethical and social issues involved in this particular case
for the child and the parents
Each image must have a caption. The presentation will be given
using ClarisWorks® or Microsoft PowerPoint®
presentation software. It should be written such that
someone else could view the presentation and understand the key
points without an accompanying verbal explanation.
You may not violate copyright laws. Any images or other resources
retrieved from the internet and used in your presentation must be
accompanied by a
telling where it was obtained.
- Here you can find a wealth of helpful information about your
Netscape software and how to overcome any problems you might
encounter with it.
- Finding what you want on the Internet can be like looking for
a needle in a haystack. Online search tools help you track down
whatever it is you're looking for.
The following exercises were designed to help you understand human
genetic diseases, including the medical facts, diagnosis, probable
course of the disorder, and the available management. While these
exercises are, of course, optional, you are strongly encouraged to
for Reporting and Writing About People with Disabilities
- The University of Kansas and other national associations have
endorsed a a set of clear guidelines to help you make better
choices in terms of language and portrayal. The "Guidelines"
explain preferred terminology and offer suggestions for
appropriate ways to describe people with disabilities.
- This represents an effort by the National Cancer Institute and
the National Center for Human Genome Research to provide basic
information about gene testing and key genetic concepts. This
booklet also provides answers to a number of frequently asked
questions about the science, potential benefits, and potential
risks of gene testing.
Counseling: Coping With the Human Impact of Genetic Disease
Consultation/Counseling: The Process
- Describes what they do and how they do it.
Testing-Health Care Issues:An Interview with Dr. Neil Holzman
- An excerpt from an interview with Dr. Neil Holzman that took
place at the "Winding Your Way through DNA" symposium at the
University of California San Francisco in 1992. Dr. Holzman is an
M.D. and a health policy expert.
Conditions/ Rare Conditions: Support Groups & Information
- Medical Genetics, University of Kansas Medical Center
Professionals, educators, or individuals seeking information on
genetic conditions or birth defects may find this list helpful;
find additional information through the national and the
international organizations listed below; or contact a genetic
counselor or clinical geneticist.
Home Page--Online Mendelian Inheritance in Man
- This database is a catalog of human genes and genetic
disorders authored and edited by Dr. Victor A. McKusick and his
colleagues at Johns Hopkins and elsewhere, and developed for the
World Wide Web by NCBI, the National Center for Biotechnology
Information. The database contains textual information, pictures,
and reference information.
Genetics, an interactive computer program which covers the
main concepts of genetics
Counseling, March of Dimes Birth Defects Foundation
- The Virtual
Hospital uses the World-Wide Web (WWW) software
technology to store, organize, and distribute multimedia textbooks
including the Clinician's Handbook of Preventive Services.
Primer on Molecular Genetics
- This primer was prepared by Denise Casey (Human Genome
Management Information System - Oak Ridge National Laboratory) for
the1991-92 DOE Human Genome Program Report.
Page for Genetic Professionals
- Information for genetic professionals at the University of
Kansas Medical Center is updated regularly for genetic counselors,
clinical geneticists, and medical geneticists with links to a
variety of clinical, research and educational resources.
- Genetics &
- The National Center for Genome Resources (NCGR) in Santa Fe,
New Mexico is assembling educational and informational resources
for the public, physicians and other professionals. This
information is selected to help the public direct and make
informed decisions about genetic information, technology and
services. It is also selected to help industry and policymakers
guide the application of genetic research and biotechnology. .
& Ethicists Mentor Network,
- Teachers and students can send questions to professionals in
genetics, law, public policy, and ethics.
Template developed by
Mark Horrell at the Illinois
Mathematics and Science Academy
Created: April 18, 1996