90% rule click and move
Help!
|
|
||||
|---|---|---|---|---|---|
| Rare diseases acct for what % in the real world? | 1-3%
🗑
|
||||
| Autosomal Dominant (AD)diseases are usually what type of disorder 90% of the time? | Problem dealing with STRUCTURE of something
🗑
|
||||
| Autosomal Recessive (AR) diseases are usually what type of disorder 90% of the time? | Problem dealing with an ENZYME deficiency
🗑
|
||||
| Examples of AD diseases are? |
🗑
|
||||
| Examples of AR diseases are? |
🗑
|
||||
| What genetic disorders should we concerned about on boards 90% of the time when dealing with karyotypes? | 13,18, 21 and sex linked disorders
🗑
|
||||
| Trisomy 13 is also known as (aka)? | Patau Syndrome
🗑
|
||||
| Trisomy 13 presents how? | Polydactyly, Microphthalmia, cleft lip and palate, MR
🗑
|
||||
| Trisomy 18 is aka? | Edward's Syndrome
🗑
|
||||
| Trisomy 18 presents how? | Duodenal atresia, Micrognathia, Rocker bottom feet, 2nd & 3rd digits overlap 4th, MR
🗑
|
||||
| Trisomy 21 is aka as Downs Syndrome, it presents how? | iris-brushfield spots
Simian crease, epicanthal folds, large tongue, MR
🗑
|
||||
| Down's patients are at risk for what problems? | Cushing defects in the heart
Acute leukemia
Alzheimers in older patients
🗑
|
||||
| Down's and genetics, where is the problem? | 90% is trisomy 21 usually d/t maternal age aka non-disjunction or can be Robertsonian translocation 14 to 21.
🗑
|
||||
| 45 XO (monosomy of X chromo) | Turner's absent barr body always female or almost a female.
🗑
|
||||
| 45 XO present with | cystic hygromas in the neck =webbed neck
Widely spaced nipples-"nipples out to here"...Wolf.
Short.
Ammenorhea and lack of sexual maturity
Big clue: Coarctation-BP high upper extr. low to NL in low extremity.
🗑
|
||||
| Klinefelters
🗑
|
|||||
| Kallman's
🗑
|
Review the information in the table. When you are ready to quiz yourself you can hide individual columns or the entire table. Then you can click on the empty cells to reveal the answer. Try to recall what will be displayed before clicking the empty cell.
To hide a column, click on the column name.
To hide the entire table, click on the "Hide All" button.
You may also shuffle the rows of the table by clicking on the "Shuffle" button.
Or sort by any of the columns using the down arrow next to any column heading.
If you know all the data on any row, you can temporarily remove it by tapping the trash can to the right of the row.
To hide a column, click on the column name.
To hide the entire table, click on the "Hide All" button.
You may also shuffle the rows of the table by clicking on the "Shuffle" button.
Or sort by any of the columns using the down arrow next to any column heading.
If you know all the data on any row, you can temporarily remove it by tapping the trash can to the right of the row.
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
Normal Size Small Size show me how
Created by:
sxirsrick
Popular USMLE sets