Select ten conditions from the following list and fill out one Genetic Condition Assignment Form for each selected condition.

Achondroplasia (dwarfism)
Alpha-1 antitrypsin deficiency
Angelman syndrome
Ataxia-telangiectasia
Breast cancer BRCA1
Bbreast cancer BRCA2
Charcot-Marie-Tooth
Cleft lip and palate
Cornelia de Lange syndrome
Congenital heart defect
Cri-du-chat syndrome
Cystic fibrosis
Down syndrome
Ehlers Danlos
Fragile-X syndrome
Hemophilia A
Hemophilia B
Hunter syndrome
Hurler syndrome
Huntington condition
Ichthyosis
Klinefelter syndrome
Leber optic atrophy
Marfan syndrome
Neurofibromatosis
Phenylketonuria
Polycystic kidney disease
Prader-Willi syndrome
Proteus syndrome
Sickle cell anemia
Spina bifida
Tay-Sachs
Testicular feminization syndrome
Turner syndrome
Thalassemia, alpha-
Thalassemia, beta-
Velocardiofacial syndrome
Von Hippel-Lindau syndrome
Von Willebrand
Waardenburg syndrome
Xeroderma pigmentosum

The Genetics Education Center's resource list may provide you with references to answer many of your questions. Also see our Genetic Conditions/ Rare Conditions Support Groups & Information home page. Additional information may be available from a variety of genetics professional societies.

Mail by Aug. 10, 1997: Genetics Education Center-GCA, KUMC, 4023 Wescoe, 3901 Rainbow Blvd., KC, KS 66160-7318 Fax: (913) 588-4060 or e-mail: dcollins@kumc.edu

Genetic Condition (choose from genetic conditions list):___________________

Describe the characteristics and symptoms of this condition:

______________________________________________________________________________________________________________________________________________

______________________________________________________________________________________________________________________________________________

______________________________________________________________________________________________________________________________________________

______________________________________________________________________________________________________________________________________________

Complete the following for this condition:

1. Population data
   • Approximate frequency of individuals born with this condition in the U.S. ____________________
             Source(s) of data? ___________________________________

   • Estimate number of individuals who have this condition and/or carry a gene for this condition in a large metropolitan city (population of city ~1,500,000) (show work) _______________________________________________________________________
     _______________________________________________________________________

2. Chromosome and/or locus information
   • Describe chromosomal anomaly, if any, associated with this condition _______________________________________________________________________

   • If single gene condition, state chromosome(s) and location on chromosome(s), if known (i.e., 3q25-26) _______________________________________________________________________

3. Answer the following questions as if you have a child with this condition.
   • Are you the child's       _____ father or       _____ mother?

   • What is the chance that you yourself have an altered gene for this condition? _______________________________________________________________________

   • What is the chance that your spouse has the gene (or carries a gene) for this condition (assuming a negative family history)? ____________________________________________________________________________________________

   • What is the chance you would have another affected child? _______________________________________________________________________

   • What is the chance your sister (assume you have one) carries this gene? _______________________________________________________________________

   • What is your sister's chance of having an affected child? _______________________________________________________________________

   • Is gene or carrier testing available? Describe: _______________________________________________________________________
     • If so, what is the approximate cost? ___________________________________________________________________

     • Where can it be done (or where can it be sent)? ___________________________________________________________________

4. Family planning
   • Is prenatal diagnosis available for this condition? ________________________________________________________________________
     • If so, describe methods available. _____________________________________________________________________

   • What options are available for family planning (regardless of your personal choice)? _____________________________________

5. Is there a support group(s) available for this condition?

Name: ___________________________________________________________________________________

Address: ___________________________________________________________________________________

Phone: ___________________________________________________________________________________

URL: http:// ___________________________________________________________________________________

Mail by Aug. 10, 1997: Genetics Education Center-GCA, KUMC, 4023 Wescoe, 3901 Rainbow Blvd., KC, KS 66160-7318 Fax: (913) 588-4060 or e-mail: dstultz@kumc.edu

© 1997 Debra Collins, M.S., Genetic Counselor: dcollins@kumc.edu

This form is one of the assignments in the:

Applications of Human Genome Technology Course

   

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Debra Collins, M.S. CGC, Genetic Counselor, dcollins@kumc.edu


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