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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Teh lgoysthoi is of yehscoptesr l(mals srpiahcle lscel w/o rltnace lopla)r. rterHiyeda ihorossyepsct si ued ot fcedet ni spoetirn iicarennttg twhi BRC abremnem slnoktee dna lsmapa emmbrean k(iayr,nn bnad 3, reioptn 42., )cip.restn lMysot ootlusmaa daotnnim eiatnncheir s(o zoyersgouhet otuitmna ecnis ouy lnoy nede neo mtautn aellel ot tge het esads.ie)

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wuagbe oT dda ot s:tih guozhmyoso HS snrepste thwi somysleih evne in ecsenba of .tesrsosrs itsh etiantp is ynlo rstngieenp whit pale nisk, nda etreh rae on sstchitecoys no teh rahileprpe are,sm so it's a rusohteyzgeo nnaykri uito.mant +9

pg32 I adnwte ot cikp theryaidre oscitsrhpsoey btu het naem orrcluacusp oonncntcaerit saw loanrm dan I hhuogtt ti wsa epdspuso to eb ?eelteadv s,lAo why aer trehe so ymna BCRs ahtt ear wya ergbgi thna het speryosehc?t +8

nephroguy mI' ugnaisms htat the MCC si lamrno caebues eth ittapen is ureeyostzgoh orf S.H oNt rseu fi htis is rcre,cot ubt htta asw ym tuothgh opcress +1

draykid eAr etreh any spapre atth xleanpi the rfdfneieec ni psrieesnxo fo mguhsyzooo sv sohzeeugtyro HS? +25

waterloo I tno'd oknw if atth srttaem as u,mhc leik het tynppeoeh feecfindre fo ozhgmsoouy ro otzehsroyegu rfo hsti ounqsei.t Sncie uoy olyn deen eno eaelll ot ohsw ht,is paly dsod. Is he oerm kleyil to aveh AA or .aA Tath wsa my thuhgto .precsos Aso l if uoy ees pcoseyestrh d'you eb ngigo orf riyankn tgrhi, not ignBlbo- bc htta hdsulo be ratgte scell - earldsergs fo CMH.C +1

alimd as I rembeerm DA are lyaswa eto.eurzgsyh Beuaesc gsuoomhyzo aer wylasa ltl.ahe +5

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+4 upvote downvote
submitted by xw1984(8)

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I tgo isth Q o.rgnw I swa gerndinwo why shti itpatne s“ah on loasnrep or amliyf ”tr.hosyi Htdreeiray rstioshsceoyp hdsluo eb a DA essida,e o,s genlyaelr k,snepiga sthi diz hlsodu be nees in chea oate,genirn irg?ht

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step1soon I asw ktihgnni hte sme!a +

wuagbe earevlS seigctne onqseisut on 2N0EMB paearp to be nigtry ot htrwo us ffo yb aighncng the scdosinepitr of ehtaniirnc,e lgevani su ot aussme omnilctepe pt,rneeacne hsm. +

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+3 upvote downvote
submitted by ∗dr_jan_itor(87)

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nCa eoanny rwanse hwy iths one ant'c eb .F taeB imatshaael ja?mor I asw iikgtnnh acbeuse fo sih minaea nda teh "eoaerunp s"netcde hicwh cenldsiu eht tniraaimedne pea.rsuoen Unessl EBNM rswiter hknti ttha uenopaer nlyo aemsn hte osen thiw rteax htwei peelpo llo

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dickass nupeEaor mpeilis nhrtenro aeeruonp e(yht nvee cisdipfee hte nptiaet aws a sepron of p,rol)al etieaeardmnrn detsnce is uusllya dpiemil by tnuryco of nioirg or by aothitr-tgsu grnwiit ne.n''remdraaeti +

poisonivy hTe CVM si lnr,moa astmelaaihss era yomrtcciic ima,asne that thni shpel ot elur tou het lhssmaias.eta wer,eHov I gto ti wgr,on ton reus wyh it ctnnoa be a ooshmgyuzo aitoutmn in eth ayknrni enge +2

adong piinoos@yv, rehot cmeertomn dtpnieo tuo st'i uoaslmota manodint os bset wrsane udowl be eootyseghzur +

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+2 upvote downvote
submitted by ∗victor_abdullatif(10)

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I khitn eth kye ot shit utnqoise si to sue aoitiinmnel ofr fastc atht we nkow fro .seur ehT tsfri is atth t'is a nrymctooci aae,inm so lla mhtieassalas rea uelr uot ecsni htal = icimcctro.y

hTta aevesl A dan D. inceS the CHMC si nrlamo c(wihh si ont twah ew uwold etxcep ofr harrteiyde cshropitssoye) dan het isetp'ant omsyspmt ear vseee,r they stmu veha a e"drml"i sevnrio of eht deisase .(ge. ldhasroipaanoc si sloa olusmatao danntomi and si ethlla if you egt eht ohzuoymsgo om.f)r

Osoiyvblu msoe big pesal ni gsiraenon ereh ubt h'tats eon tahp ot eth htgir warsen

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victor_abdullatif teid #1: eadm a pyo.t nmtae to yas te"h n'stpeiat myostpms era OTN svryeesr "roe uotab a!tth +

l0ud_minority Yse I dt'on rnunasdedt wyh the CHMC is ornlam ttah si iltls nto hatw is cdeetp.ex I iwsh MNEB pedrdovi eanwrs eksy and edcit tiehr ucssreo rfo ethri tloiaenr.a +

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+1 upvote downvote
submitted by sciguy(1)

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SH is lutamsoao ntd,moian ubt sbetihix cpmilotene npatc.eneer So he dah no eorcrd of nesraopl iyaflm, tub ltlsi lyklie eegrosu.hzyt

kid(pe)iiWa Teh ncillaci eiesvtry of SH ivresa frmo oyfm-serptme rraerci to vesere lymhsoesi bucease teh oddiresr sitbihxe nipeeomclt anrteceenp in sit spnxisroee.

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ibestalkinyo This si thaw ehwrt em of;f I iruegfd thwi 2 deeafunftc s,tprean 'its emor ilyelk eh had an soaaotmlu eesevscir um.noitat +1

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+0 upvote downvote
submitted by ∗strugglebus(189)

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Aout dom sdeesia rea auyslul stoehuzgoeyr (ro so etyh ntaw su to s)aesum

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xxabi oHw od you know is uaatlomso imadnon?t +3

scpomp yeerardHit seyocrpitsosh +1

fshowon snIt eht neam aulpuocrsrc nlgibomheo noenianrttcco sarceedni in o?sycorssetiph tsTha wtha uhohrtg em fo.f +5

charcot_bouchard sye, woudl be nci in erpv .MENB But hist is ttibsha mbne .20 U aevh to yiedntfi ctyrssepeho ouwthit erntacl orlapl in BFP +4

charcot_bouchard ,esy woudl be icn in prve M.NEB Btu shti is ahtstbi enmb 02. U have ot ftyineid teyerhpossc uiwhtto acntrel palrlo ni BFP +

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+0 upvote downvote
submitted by ∗sunnyside(2)

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naC ennaoy isfuyjt hwy thye idd not redeibcs an nedescira H?CCM AF 0129 syas istspcsyoreoh sha ghhi C,HMC and they did ton vnee vhea it no eth prpeu dne of rao.mnl

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