Save
Upgrade to remove ads
Busy. Please wait.
Log in with Clever
or
show password
Forgot Password?
Don't have an account?  Sign up 
Sign up using Clever
or
Username is available taken
show password


Make sure to remember your password. If you forget it there is no way for StudyStack to send you a reset link. You would need to create a new account. Your email address is only used to allow you to reset your password. See our Privacy Policy and Terms of Service.

Already a StudyStack user? Log In

Reset Password
Enter the associated with your account, and we'll email you a link to reset your password.
focusNode
Didn't know it?
click below
 
Knew it?
click below
Don't Know
Remaining cards (0)
Know
0:00
edit
Embed Code - If you would like this activity on your web page, copy the script below and paste it into your web page.

  Normal Size     Small Size show me how

genetic disordersss

autosomal dominant inheritance

QuestionAnswer
Achondroplasia *Autosomal domiant-only one parent has to have it, girl or guy *Population-190,000*Shortened spine, legs, and arms(drawfism)*No treatment *Normal life span *Quality of life-Normal
Camptodactyly *Autosomal Dominant *Affects 1% of general population to varying degrees *Rigid fingers, tight ligaments *Hand therapy, Surgery *Normal life-span **Normal quality of life
Familial hypercholesterolemia *Autosomal Dominant Gene defect on Chromosome 19 *1 in 500 people in average amoungst every country *Obesity, High colestorol, Heart attacks, Cholestorol pockets in eye lids *Constant diet and excericese:limitations to most foods o keep lipid level down
Familial Hypercholesterolemia *Almost average life span with constant treatment-normal is to 50 to 60 years of age. *Relatively normal life, with the exception of not being able to eat most foods
Huntington's *Autosomal dominant disease defect on chromosome #4 *Population 350,000 in World *Brain cells waste, uncontrolable movements,hullucinations, *no treatment *The life span of someone with Hungtingtons varies by generation *life quality-horrible
Marfan syndrome *Defect of gene Fibrillin-1 *1 in 5000 Americans have it *Abnormal connective tissue, extremely tall, with lanky arms, scoliosis *Physical therapy *Average life-61 years *Quality of life, ok, back brace needed, physical therapy
Polydactyly *Trisomy 13 *1 in every 600 african americans *Extra toes, or fingers, or both *surgery as treatment*Average life expectancy *Normal life
Progeria *Replacement of cytocine for thymine in LMNA protein. Mutation *1 per 8 million births *Premature aging *No treatment *LIfe expectancy 13 years *Quality of life-bad
Neurofibromatosis *TYpe 1 located on chromosome 17: Type 2 located on chromosome 22 *1)1 in 4,000 2)1 in 30,000 births *1)Nerve problems 2)Causes Tumors under nerve cells *Nuerosurgery, hearing aids, removal of tumors.
Created by: oreo-theif
Popular Biology sets

 

 



Voices

Use these flashcards to help memorize information. Look at the large card and try to recall what is on the other side. Then click the card to flip it. If you knew the answer, click the green Know box. Otherwise, click the red Don't know box.

When you've placed seven or more cards in the Don't know box, click "retry" to try those cards again.

If you've accidentally put the card in the wrong box, just click on the card to take it out of the box.

You can also use your keyboard to move the cards as follows:

If you are logged in to your account, this website will remember which cards you know and don't know so that they are in the same box the next time you log in.

When you need a break, try one of the other activities listed below the flashcards like Matching, Snowman, or Hungry Bug. Although it may feel like you're playing a game, your brain is still making more connections with the information to help you out.

To see how well you know the information, try the Quiz or Test activity.

Pass complete!
"Know" box contains:
Time elapsed:
Retries:
restart all cards