Introduction

Anne, a case study in Genetic Counseling:

Anne:

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.

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 disease
• 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 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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