The 90% rule Word Scramble
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| 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 |
Created by:
sxirsrick
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