NBME 20 Heterozygous mutation in the ankyrin gene (NBME Answers)

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Retired NBME 20 Answers

nbme20/Block 3/Question#11 (reveal difficulty score)
A 3-year-old boy is brought to the physician ...
Heterozygous mutation in the ankyrin gene 🔍 / 📺 / 🌳 / 📖
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+14 upvote downvote
submitted by ∗nala_ula(127)

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hTe yotsoglih is of epssteorchy slm(la hpriscale llces w/o ctlrean rlopal). tiyeerdraH hprosstcysoei is ued ot dtecfe in intsepro teinritncag tihw CRB bmraneme losetkne dan samlpa enmmerab (yiran,kn nabd 3, rtnieop ,2.4 )sr.ecnipt oMtyls asoaotlmu moandnit ehtacnrenii os( eoegrzsuyoht maiutnot nseci oyu onyl nede oen utmtan eellla to egt teh ds).eisae

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wuagbe oT dda ot t:his hzyouoosmg HS reptsnse wthi ssoimhyle neve in csnebea fo rsstoses.r this apitnet si oynl segenrpitn htwi plea isk,n adn htree era no ihssccettoys no eth haelerppir erma,s so ist' a uzhgerotyose niykarn m.touitan +9

pg32 I awendt ot cipk ryadierhet rtsoissycheop btu the anem pacrlucsour ceoantocntrin saw mnroal and I hhttogu ti wsa ppoesusd to be veetad?el ol,sA why rea treeh so namy CBsR ttah ear wya biregg ahnt teh c?hpesoreyst +8

nephroguy 'Im nmasgsiu ttah het CCM si arlomn bsuceae the enaptit si hsztroyoeuge rof .SH toN reus if this is roetccr, tbu ttha swa ym gotthhu soscrep +1

draykid Are eerht yan rppsea ttha npeilax het fefrcdenie ni sxnerpeiso fo ohyuomzosg vs rozuteghesyo S?H +25

waterloo I nt'od onkw fi atht sttaerm sa ,mhuc lkie het onephpety dnfreeicef fo yuhogmozos or hzoyeugoestr orf htsi qi.nesout Siecn you nylo eend neo laelel ot swoh s,ith ypal odds. sI he eorm ekllyi to ehav AA ro A.a That asw ym hhttoug orspse.c lo sA fi uyo see creetoypssh yud'o be iggon ofr akrinyn gtr,ih ton boligBn- cb tath houdls be tgatre lselc - eeadsrlgrs fo HC.MC +1

alimd as I ebrmerme DA ear laayws yuegreszt.ho seaueBc yzsoomohgu rae salwya lale.th +5

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+4 upvote downvote
submitted by xw1984(8)

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I got ihts Q ogw.rn I was nernwdgoi wyh itsh apnteit s“ah no rsaeolpn or laymif yrts.oh”i riHtyardee spyseooictrsh dlusoh eb a AD essiea,d ,so enarylleg piskean,g shit dzi ohsdul eb esne in ceah nertiona,ge h?rgti

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step1soon I was htikngin the sema! +

wuagbe eeralvS eticgnes uqiestosn no EBNM20 apapre to eb ignyrt to htrow us ffo yb hcaniggn teh piscitersodn fo eihaictrnen, lnaveig su to aessum mtonlepice eten,pcaren .smh +

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+3 upvote downvote
submitted by ∗dr_jan_itor(87)

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naC eynaon rnaesw hwy htis eon tacn' be .F eBat lasiehaatm jmor?a I saw ntgknhii baueesc fo sih aieanm adn eht peeaon"ru c"eetdsn whchi decnilsu eth neadiarentim rpesa.ueno eUlsns MENB rtirews nkthi atht eneapuro ynlo nasem eht oens itwh xrtae ewthi plpeeo oll

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dickass oeuaEpnr misilep henrnort oeenapru the(y neve ceeidpsif teh enaiptt aws a poenrs of r)all,po treeenadirnma sdenetc is slulyau meiipld by trunyoc of riogni or yb otrtuha-sgit itrgwni r'.edaaie'trmnen +

poisonivy heT VMC is lno,arm seshaaitslam rea irctocymic ania,mse thta tihn pslhe to urel tou the saahtlsiam.es ,weovrHe I ogt it n,wgro otn resu hwy ti anctno eb a sogomuohzy motiaunt in het knrinya enge +2

adong oiy,@ospniv ethro cnmeoemtr dntepoi out sti' ulaamoots iaondtmn so stbe rewsan luwdo eb rsozteogyueh +

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+2 upvote downvote
submitted by ∗victor_abdullatif(10)

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I inkht eht kye ot ihst esnquiot si ot sue nomtalieiin for tafsc atht we knwo rfo e.urs heT irfts is that s'it a ioccontymr anemai, os all atslamiheass aer lrue uto isenc alth = orccy.mciit

htTa vleeas A adn D. ceSin hte HCMC is lroman cwi(hh si tno wtha ew dwlou cxptee for eaehdyirrt triepssc)yshoo dan het tpi'netsa mystmosp rea ereev,s ythe umts ehva a ieldrm"" ovsnier of eht aesedsi .e.g( diascpnahlroao is aosl lmusoaota omadnnti nad is ltalhe if ouy get het ozhsuogoym fm).ro

uilvsyobO eosm gbi pleas in sonerinag rhee btu taht's neo htpa ot het ghitr rsanwe

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victor_abdullatif itde 1#: maed a otp.y teman ot sya e"ht aipetn'ts osystpmm era ONT "errysose ver obatu tht!a +

l0ud_minority sYe I 'dnto tnddrensau hyw eth CCMH is oamnrl ttah is llist ont tahw is ept.ecdxe I hwsi NBME doivrdpe earswn kyes nda ceidt tiehr eusocsr ofr hirte tol.anirea +

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+1 upvote downvote
submitted by sciguy(1)

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HS is aoatmolsu ,toidmnna tbu itsbhixe elcminepot a.enrneecpt oS he hda on codrre fo srnoeapl afm,yli ubt llsit ylilke ezsogetyhur.

ikiWapdei)( eTh iailclnc yivtesre fo HS resvia omfr sptyommr-efe rcrraie ot revese ieyhssmlo ceuabse the esridodr iihetsxb epnletmcio ertnpacnee in ist ore.nxiesps

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ibestalkinyo hiTs is wtha tewrh me f;fo I edrfiug htwi 2 nteefcfdua ntrsaep, t'is omre kllyie eh dha an taulaomos evcesesir .amntiotu +1

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+0 upvote downvote
submitted by ∗strugglebus(189)

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Auot mdo essdeia ear ualyuls etoosehrzgyu o(r os etyh ntwa su to s)aumes

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xxabi owH do uoy okwn is autmoalso ?mdontnia +3

scpomp deHeartryi orotecpsshsyi +1

fshowon tsIn eth mnea olccursaurp ooembhigln ronainncttceo casdenrei ni coessoitshyp?r Tahts ahwt hgtuohr me o.ff +5

charcot_bouchard ys,e lduow be cin in perv MEB.N Btu siht is tahitbs nebm 20. U ahve ot teifdyin otspsryheec owthuti nerclat larlop in BPF +4

charcot_bouchard ,eys dulwo be nic in evpr EBM.N tBu sthi si tistbah nemb .20 U aevh ot nfyitdie srotcpyehes thituow lacrtne prolla in FPB +

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+0 upvote downvote
submitted by ∗sunnyside(2)

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anC enaoyn ftiyjus hwy they did tno eisbdecr na daceiersn CHMC? FA 9120 yass tsceoisorhysp hsa high MC,CH dan ythe ddi tno neev aehv it no the prpeu dne of onmra.l

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