| Question |
Answer |
| 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 |
Ricardo Hernandez
on 2009-09-19
Buen Viaje lv.2 ch 8
