NBME Trinucleotide repeat expansion (NBME Answers)

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free120/Block 1/Question#33 (reveal difficulty score)
A 2-year-old boy is brought to the physician ...
Trinucleotide repeat expansion🔍,📺
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+13
submitted by benwhite_dotcom(593),

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Fliegar X is a CGG ecintluoriedt rtpeae neisaxonp droserdi h(hcwi elik nno’sttngHiu si a estt erov.f)tai Teh ralmtnae enucl is hte hnit to eth lkneidX- nticrineea.h Amlsiteuk-i vsirbeoah dna eleyavlrti garel adhe rea com;omn lerag eettlicss lyno rpapae etrfa eb.tpryu

cbreland Also repeat expansions will get worse with each generation. I went with the learning difficulties and then uncle having issues that were not as severe to a child with issues within the first 2 years of life as being a signal of a triplet expansion +

osteopathnproud Fragile X syndrome is the most common inherited cause of intellectual disability FA20 pg 62. I just saw intellectual disability plus heritable = fragile X syndrome. +1

+0
submitted by amy(1),

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rnaeLde eitnohsgm enw d.tayo " ndha pgfin"lpa asesastico nto only htwi piehatc etynapohhela,cp utb sola matusi reoi.....bavh

drdoom hand flapping ≠ asterixis +

drdoom hand flapping -> https://youtu.be/4ALy6I1J1uo +

drdoom asterixis -> https://youtu.be/3fU-BbHdESY +

drdoom another asterixis (notice how holding her hand in extension causes a contralateral clonus) -> https://youtu.be/-R3lRmu7dbk +

+0
submitted by lukin4answer(5),

Can anyone clarify why "BOTH PARENTS had learning difficulties??""

-2
submitted by abhishek021196(82),

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liFrgea X deoymrns Xd-liekn danntimo .ithnnaiecre ateirctTleudoreeipn ni RMF1 neeg myothpenl ha=tr i=ye seopene.exsnrcris aId

toMs nmoocm eitrendhi o eufacs cllaunetilte syaitildib Don(w rsymeodn hiest mtso mcmono ntiecge ,cueas btu ssaoet scm courc lyda)oplracsi.

Fid:gnnsi plaptte-busor emdrgr deaacnirh(omolsci s)ts,ete nglo acfe twhi a rgae ja,lw ealgr edetevr ras,e usma,it liratm aolvrv,el psaep yeeloiprbmh jnst.oi

rneiiuoldcetT pertea eonsinpax C(G[)G n ] nrrgucioc usd ensoeoisg.

melanoma decreased expression +7

jbrito718 one mistake and this guys great explanation plummets. Bunch of savages +