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The 90% rule

90% rule click and move

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.
Created by: sxirsrick



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