How Do We Inherit Our Biological Characteristics

How Do We Inherit Fragile X?

Shelly Peretz
Science Department Chairperson
Thornridge High School

Office Phone: 708-225-4585
speretz@interaccess.com

Photograph taken from Fragile X Advocate.

Introduction

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 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:

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 reference telling where it was obtained.

Technology Support

Netscape Basics
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 Information
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.

Helpful Exercises

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 complete them:

Guidelines 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.
Understanding Gene Testing
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.
Genetic Counseling: Coping With the Human Impact of Genetic Disease
Genetic Consultation/Counseling: The Process
Describes what they do and how they do it.
Genetic 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.
Genetic 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.
OMIM 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.
Mendelian Genetics, an interactive computer program which covers the main concepts of genetics
Genetic Counseling, March of Dimes Birth Defects Foundation
Newborn Screening
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.
DOE 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.
Home 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 & Public Issues
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. .
Geneticists & Ethicists Mentor Network,
Teachers and students can send questions to professionals in genetics, law, public policy, and ethics.

 

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