Busy. Please wait.
Log in with Clever

show password
Forgot Password?

Don't have an account?  Sign up 
Sign up using Clever

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.
Didn't know it?
click below
Knew it?
click below
Don't know
Remaining cards (0)
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


Developmental Genetics and Prenatal disorders

in the embryonic phase how many wks are there? first 3 wks: Blastocyst, Implantation, gastrulation formation of 3 germ layers
Initiation of nervous system, basic body plan and organogenesis happens in what wks? 4 to 8
Fetal phase Wks 9 to 40
All cells undergo specifiction and determination to achieve their ultimate differentiated phenotype except what two cells? Germ and Stem
Cells have already become committed to the point that removal of a portion of an embryo will not allow normal embronic development. *Conjoined Twins Mosaic Development
Transcription factors control the expression of other genes
Mutation of a gene encoding a transcription factor would cause what to happen? Synpolydactyly (webbing and extra digits) // bone malformations of hands,wrist,feet, and ankles
bad cell to cell signaling by cell surface receptor and a ligand can cause birth defects name some? Achondroplasia, craniosynostoses, Polycyctic Kidney Disease
Cell Migration Programmed cell movement especial important in the central nervous system, which is developed from the neural tube
Cell Migration abnormalities name 3. Miller-Dieker syndrome, Hirshsprung disease, Waardenburg Syndrome
what occurs during development of the immune system to elimnate lymphocyte lineages that react to self, preventing autoimmune disease? Apoptosis - critical for tissue remodeling during morphogenesis (separation of digits example)
What are 3 major categories of birth defects (dysmorphology) Malformations, Deformations, Disruptions
what results from intrinsic abnormalities in one or more genetic programs operating in development? Malformations (extra fingers)
Deformations (common in 2nd Trimenster) Caused by extrinsic factors impinging physically on the fetus during development (ex: Arthrogryposes contractions of the joints of the extremities)
Result from destruction of irreplaceable normal fetal tissue due to vascular insufficiency, trauma, or teratogens. Disruptions (more difficult to treat)
Give % : Complex inheritance ? // Single gene mutations ? // Chromosomal imbalance ? Complex 50% // Single gene 20% // Chromosomal 25%
What is a single causative agent results in abnormalities of more than one organ system in different parts of the embryo or in multiple structures that arise at different times during intrauterine life? Pleiotrophy (ex: Rubinstein-Taybi Syndrome)
What would be 3 indications for prenatal testing by invasive procedures? Advanced Maternal age, Previous child with de novo chromosomal aneuploidy, a parent with a structural chromosome abnormality, Family history of X-Linked disorder, Risk of neural tube defect in first degree relative
What are the 4 invasive Test? Chorionic Villus Sampling (CVS) // Amniocentese // Cordocentesis // Pre-implantation genetic diagnosis
Amniocentesis typically performed when? 15 or 16th wk
Biopsy of tissue from chorionic villi performed b/t what time frame? 10th and 12th weeks
Combining results fo 1st and 2nd trimester testing to increase ability to detect autosomal trisomies (especially Trisomy21) is known as what testing? Stepwise Sequential Testion
Created by: cmuox2000
Popular Genetics sets




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:
restart all cards