Save
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

DIT genetics

QuestionAnswer
what is the probability that a femal heterozygous for an X linked disease will pass it on to her son? 50%
what is the probability that a female heterozygous for an X liked disease that mates with a normal male will have a carrier daughter? 50%
what is the probability that a female carrier of an x linked disease will have a child with that disease assuming she mates with a normal male? 25%
Both males and female are affected with a disease in every generation. autosomal dominant
a/w floppy mitral valve, dissecting aortic aneurysm, berry aneurysm Marfan's
a/w mitral valve prolapse, liver disease, berry aneurysm ADPKD
hemangiomas of retina/cerebellum/medulla VHL
increased MCHC, hemolytic anemia hereditary spherocytosis
cafe au lait spots and soft tissue growths NF I
macroorchidism and autism fragile X
endocardial cushion defects are common Down's
recurrent pulmonary infections, steatorrhea CF
multiple fractures, easily confused with child abuse osteogenesis imperfecta
a/w alzheimer's after age 35 Down's
prone to bilateral acoustic schwannomas NF II
excess fibroo fatty tissue deposits amongst muscle muscular dystrophy
used to dx CF Cl sweat test
defective gene in CF? CFTR
southern blot DNA: DNA
northern blot RNA: DNA
western blot protein: Ab
accumulation of GM2ganglioside tay sachs
a/w renal failure fabry
accumulation of dermatin sulfate Hurler, Hunter, Scheie
deficiency in hexosaminidase tay sachs
2 pts have the same mutation but different phenotypic expressions. One got the mutation from the dad, the other from the mom. What's this called? imprinting
Created by: kayjames
Popular USMLE 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