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 sooygihlt is of scoetehysrp ma(sll haslcreip eclls ow/ ncaelrt rop)all. iytaredreH scyitoherspso is ude to etfced ni orstepni taceiitnngr twih CBR nreembma esltokne nda samlpa nmebemar nayk,in(r nadb ,3 rpnteoi 4,.2 ct.ip)sner lysotM ooumlsata tnnodami ncinteihrae os( eosgzeyrthou muonitat nicse uyo ynol eend neo amutnt alelle to egt hte ).deseasi

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wuagbe To dda ot iths: osugzhyomo SH epsetrsn with ihosylsem eenv in aebecns fo se.srssrto this niatept is oynl isrpnnteeg hwti eapl s,nki adn rhete era no ttyoicscshes on teh eparrehlpi er,sma os 'tsi a euheotzrgosy yiknnra ttmnuoi.a +9

pg32 I awnetd ot ipkc aedirreyth hrspssyeoocit ubt teh eman alcupsrocru niotcectnanro was nrlaom and I htgtuho it aws udsoppse ot eb ledvat?ee As,lo hwy rea rhete os anmy RCBs that are way ieggrb htna het ssyetrpehc?o +8

nephroguy 'Im sisumgna thta the CCM is rmnola caeubes het teanpti si useyezrohtgo fro .HS toN sure fi ihst is ceoc,rrt btu htta asw my otghthu socrspe +1

draykid rAe etrhe nya rpaspe atth lpiaxne teh cfenieerfd in sienxspoer fo osyhugoozm sv oohrsgzetyeu H?S +25

waterloo I odn't wkon fi atth tmtesar as mch,u leik teh ppeeyntoh erdeiceffn of hzgsouyomo ro hzroosuygtee rof shti u.isqoten nSeic uoy olny ened noe ellael ot wohs st,hi ypal .dsod Is eh orme lekliy to vhea AA or .Aa aTht was ym tguhhot eorc.pss As ol if you see syepeocrths o'dyu eb nigog rof nnkiyar irg,ht tno bin-lgoB cb ahtt oushdl be tertga llsec - edrrselgsa fo MCCH. +1

alimd sa I reebemrm AD rea ylaasw theuegro.ysz eascueB gzsyooumoh ear awslay tahel.l +5

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+4 upvote downvote
submitted by xw1984(8)

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I tgo sthi Q gn.owr I was ngrnowdei yhw shti teiapnt ah“s no psaolenr or iafmyl tsoi.yrh” reidyHarte sihopstsecory dluhos eb a AD sisedea, ,so eegrlalyn pa,gisnek ihst idz usdhol be nsee in cahe eagerontni, rhg?ti

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step1soon I aws gtnknhii hte ma!se +

wuagbe vSalere eegicnts seinqsuot on ME2B0N rapeap ot be nytigr ot tohwr us off by cnhngiag eht epscrdsoiint fo nnaiie,hcter lnaegiv us to suaems peoinmlcte rcenp,aeent .shm +

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+3 upvote downvote
submitted by ∗dr_jan_itor(87)

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Cna eanoyn rawnse why ihst noe na'ct be .F aBet taamaelhis ramjo? I wsa ntnhgiki saeuecb of ihs aimnae dna the p"uaoenre "ceentsd cwhhi udslneci teh nraidemaietn eanpsuor.e sslenU ENBM rswerit ntihk hatt oernpuea nyol smean eth eosn wiht xerta wheti loeppe oll

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dickass Eruoenap impisle nerthron eperunao y(het eenv ipdsfieec the apientt asw a peonrs of )ro,llpa rdeneemantria endtces is yaslluu lipedim yb touyncr of irinog ro by uts-trgtohia ritwign rea'eardmit.en'n +

poisonivy ehT CMV is omna,lr ealasmaitshs rea iccitymrco a,asnemi htat hnit sphel to relu uot the hsatemaiss.al ee,Hvorw I otg ti on,rwg tno eurs wyh ti ctnano eb a ymuoszohog niuoattm ni eth nakynir nege +2

adong oiins@,oypv hrote ermmnetco toepdni uto s'ti tasamuolo noidntma so tebs ewasrn ulodw eb gyethsoezoru +

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+2 upvote downvote
submitted by ∗victor_abdullatif(10)

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I tiknh eht eky ot hist enoqtuis is to eus imntanoilei fro tasfc htta ew oknw ofr suer. heT rfsti is htta t'is a oncyoirtcm i,enaam so lla aimealhsasst rae reul tuo secni hlta = coctcrmyi.i

htTa aelsve A dan .D nScei the CMHC si olnamr hwcih( is ont thaw ew wdlou xpetec fro rrtaihedey hpco)ersoisyts adn eht npatsie't tymmspso era eere,sv ethy smtu have a m"r"ield insevor of hte eaiessd (e..g aociopladnshra is soal laosaumot ndotmian adn si laehtl fi you gte eth osougzmyoh o).mfr

ubvOyolsi soem big slpea ni arisonegn eerh ubt thtsa' one tpah ot teh irhtg rseawn

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victor_abdullatif etdi 1:# dema a y.otp nmtea ot ysa "het saptite'n spytmmso era TNO "sev errysore uatob aht!t +

l0ud_minority eYs I o'dtn tenandursd wyh teh CCHM is lnmoar ttah si tllis ont athw si dt.xpeeec I shwi NBEM pvdirdoe rasenw ekys and iectd heitr cessrou ofr erhti ne.iaortla +

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+1 upvote downvote
submitted by sciguy(1)

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SH si lmoauoast tman,iond ubt hxesibti ielpcmeton eaneercnpt. So he hda on rdecro of snpaorel almyif, tbu lslit keilly sohuyetgezr.

i)(ikipdWae eTh claincli sirvyeet of SH ivresa rfmo mrpeymoft-es crriear ot seeevr sholeimys buceeas hte deirsord betsihxi nteoelicmp ereenpcnat ni tsi oenri.espsx

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ibestalkinyo This si hawt wehtr me ff;o I efgurdi ihwt 2 udnefcaeft ntpsaer, st'i ermo ylleki eh dah an lmuoaosat reievessc uiot.mtan +1

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+0 upvote downvote
submitted by ∗strugglebus(189)

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toAu mdo eaisdes aer lusauyl ouretgozeyhs (ro so ethy nwat us ot sms)aue

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xxabi Hwo od ouy kwno si tauamsloo md?anntoi +3

scpomp ryteirdeHa ystroshpoceis +1

fshowon Inst hte nmae lpuscrrocau booinhmgle etotnoaccnnir recianeds ni peo?syosrctsih htaTs wtah rgtuhoh em ffo. +5

charcot_bouchard se,y wdolu be inc ni prev MNEB. uBt shit is aitbtsh ebmn .20 U evah ot iifydnet yhcptroesse tiowtuh reatlcn lplora ni BPF +4

charcot_bouchard e,sy wdulo be cin ni prve M.EBN Btu tihs si aitsbht nmbe 02. U hvea to ytndiife hsyctreespo utiohtw lnrtaec raplol in BFP +

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+0 upvote downvote
submitted by ∗sunnyside(2)

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nCa nneyao yiutjsf ywh hyet ddi not eiedrbcs na erdncsaie CMCH? AF 0219 sasy prscyotisseoh has ighh HCMC, nad ehty idd not eenv hvea ti on teh perpu nde fo ma.lonr

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