NAME ______DATE ______PERIOD ______
PHYSICIANLET.WKT
PHYSICIAN’S LETTER TO PARENTS: GENETIC DISORDER/BIRTH DEFECT
In this activity you will serve as a genetic counselor for a couple that has learned that they will be having a child with a genetic disorder or birth defect. You will investigate one genetic disorder and share your information with the expectant parents in the form of a professional letter. Listed below are the requirements of the letter which should be between 1-2 pages long.
1) Must be in standard letter format
Proper Heading (2) ______
Proper Greeting (2) ______
Three Paragraphs in Body (3)______
Closing and Signature (2) ______
2) Body Paragraph 1 Should Include:
· If the disorder was inherited, how was it inherited?
· What chromosome is involved (books and posters are available for this)
· The cause of the disorder (non-disjunction, deletion, unknown, etc)
· The frequency of the disorder in the general population
· Populations/risk groups for the disorder (if any) such as gender, races, ethnicities, religious groups.
(5) ______
3) Body Paragraph 2 Should Include:
· Symptoms of the Disorder
· How the disorder affects the child’s life (physically, mentally, socially)
· The expected lifespan of the child
(4) ______
4) Body Paragraph 3 Should Include:
· Advice for the parents on raising the child so that
he/she leads a productive life
(4) ______
References
· minimum of two in proper format on a separate page
(6) ______
TOTAL (28) ______
GENETIC DISORDERS AND BIRTH DEFECTS
ACHONDROPLASIA MAPLE SYRUP URINE DISEASE PHENYLKETONURIA
AMYOTROPHIC LATERAL SCLEROSIS FRIEDREICH'S ATAXIA
NEUROFIBROMATOSIS
GALACTOSEMIA WILSON'S DISEASE GILBERT’S SYNDROME
OSTEOGENESIS IMPERFECTA TOURETTE SYNDROME FRAGILE X SYNDROME
CRI-DU-CHAT SYNDROME PRADER-WILLI SYNDROME NIEMANN PICK DISEASE
FABRY'S DISEASE EHLERS-DANLOS SYNDROME RETT SYNDROME
MARFAN SYNDROME ALBINISM ALPHA 1 ANTITRYPSIN DEFICIENCY
EDWARD SYNDROME (TRISOMY 18) PATAU SYNDROME (TRISOMY 13)
SPINA BIFIDA GAUCHER DISEASE LESCH-NYHAN DISEASE
RETINOBLASTOMA XERODERMA PIGMENTOSUM ANGELMAN SYNDROME
WOLF-HIRSCHHORN SYNDROME SOTOS SYNDROME ALZHEIMER’S DISEASE
LUPUS WILLIAMS SYNDROME NAIL PATELLA SYNDROME FANCONI ANEMIA
SUGGESTED RESOURCES:
Wynbrandt, James and Mark D. Ludman. The Encyclopedia of Genetic Disorders and Birth Defects New York: Facts on File, Inc., 1991. (Esperanza and Yorba Linda Libraries; ALL DISEASES/DISORDERS ABOVE ARE IN THIS REFERENCE BOOK
These books are available in my classroom for your use before and after school:
Cummings, Michael. Human Heredity: Principles and Issues
Belmont: Wadsworth Publishing Company, 1997
Hartl Daniel L. and Elizabeth W. Jones. Genetics: Analysis of Genes and Genomes, Sixth Edition. Sudbury: Jones and Bartlett, Inc., 2005.
Lewis Ricki. Human Genetics: Concepts and Applications, Sixth Edition.
New York: McGraw-Hill, Inc. 2005.
SUGGESTED WEB SITES:
A “foundation” website or one by a university is more reliable than one made by a family member of an individual with the disease/disorder. Ex: Cystic Fibrosis Foundation
Alphabetical List of Specific Diseases/Disorders from the Karolinska Institute:
Online Mendelian Inheritance in Man (OMIM):
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM
Genetic Alliance: http://www.geneticalliance.org
National Organization for Rare Disorders, Inc. (NORD) http://www.rarediseases.org
March of Dimes: http://www.modimes.org
Exceptional Parent: http://www.eparent.com
Human Genome Project Information:
http://www.ornl.gov/TechResources/Human_Genome
Med Help International – The Patient Medical Information Center:
http://www.medhelp.org
Genetic Science Learning Center:
http://gslc.genetics.utah.edu