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 tlogysohi is fo pysroheecst l(alsm erhailpcs lclse ow/ lrcneat ol)pa.rl eridrHayte toycsshrseopi si due to cdftee in potnrise cenanigtirt thwi BRC enmemrab elnetsko nda aasmpl nmrmabee kn,ri(nay abdn ,3 tiorenp 42., retsp.n)ci yolMst ulaostaom nnaimotd aeincerhtin (os zotrgsueoehy ntiauotm ciesn oyu olyn ened noe nutmat lellea to gte teh d.sees)ai

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wuagbe oT add ot :siht myszouoogh SH stesrpne iwht mhisyoles even in eabsecn fo sorse.strs tihs teaptni is lnoy nepestngir wtih lepa skin, dna teehr rae on cyhoeittcsss no teh eiapeplrrh ,easmr os i'st a tegzerosouhy kainryn m.oinattu +9

pg32 I dntwea ot ipck itdrreeayh hrssosyceipto tbu het mnea ruccurpsloa naiecnrntootc swa alrnom nad I uothght ti asw susdpeop to be ?etdlveea los,A ywh are rteeh os mayn BCsR hatt ear awy eggibr tanh hte shecpot?yers +8

nephroguy 'Im numigsas ahtt eth CMC si lnmora uecabse het epntait si gteusheyzoor fro HS. Not sure fi itsh si ertc,roc tbu htat asw ym ghuhott cerossp +1

draykid reA erthe nay rpaspe thta aixelpn het fefderiecn in senipoxers fo ougyohsozm sv ezysteugoorh S?H +25

waterloo I don't owkn if ahtt ttmsrea as c,hum ekli the etohnpeyp necerffeid fo zmougyohos or soethzgoyeur for ihst tqnoise.u eSnic ouy ynol need one llaeel ot ohws is,ht apyl sdo.d Is eh emro ekilly to avhe AA ro Aa. tTha wsa ym oghutth .cpessor l Aso if oyu see eopryhcstes ouyd' be oiggn rof iknyarn ,hrtig nto -liBobgn bc ttah uohsdl be ttarge lcles - ldrgseraes of .CHMC +1

alimd sa I eebrrmme AD rae awlyas otzergysh.ue acBseeu zohgsoumyo rea laywsa ehtal.l +5

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+4 upvote downvote
submitted by xw1984(8)

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I gto shti Q owrn.g I saw ngroiedwn why ihst ntpatei “has on polaenrs or flmyia ”hy.itros iraHedyert potysshcoseir lsduoh be a DA dae,sies o,s lnelagery ikepansg, shit dzi uoshdl eb nees in ahce ee,tnongira it?rgh

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step1soon I wsa ighinntk eht !msea +

wuagbe everSal ncgeesit inoeqsstu no MNB02E aappre ot be rytign to worht us fof by hcaignng het irecpodsnits of ne,taheicrni lavenig su to sameus neolpmecit re,paecnent smh. +

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+3 upvote downvote
submitted by ∗dr_jan_itor(87)

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anC yaonen rswane hyw sith oen ac'nt eb F. etBa lheaasimta m?oarj I wsa ingiknht suebcea fo ish ainmea nda teh u"enrepao ecntds"e iwchh iceudsln eht meniaeadntri ear.pounes Uselns BEMN wtsrire tknhi atht enepruoa lony nmaes hte eosn ihtw axrte tihew ppeloe oll

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dickass nuorpEae imepisl rroennth ueearonp ey(th eenv isdcpefei eht intpeta aws a rnospe fo rla,opl) datienrenrame ctsende is luyausl depmlii by onyrctu of gnorii ro yb gu-otihartst rtnigwi ia.tarrmnedee'n' +

poisonivy ehT MVC si ,loarnm taaasieshsml rae cyimictorc iam,ensa thta hint ehpls to elur otu hte lsahemsi.aast wvreHe,o I got it onwgr, tno ruse why ti onatcn be a hosmzogoyu anoittum ni eth iynrank eeng +2

adong iipo@o,yvns etohr mtrnceemo ndpoeti tuo 'sti usmoalota onnaidmt so tseb ransew dlwuo be hooezguyrest +

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+2 upvote downvote
submitted by ∗victor_abdullatif(10)

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I hinkt het eky to this nstouqie is to ues aomitelniin rof sacft atht we wnko orf su.re heT frsit is htat 'sti a otcmriyonc amiean, so lla asmialhaests rea ruel uto icnes ahlt = otcic.cyirm

Ttha eveasl A nad D. necSi eht HMCC is mnlora h(wich is tno athw we dlowu etpxec for erhrtadiey hrt)seisopcsoy nda eht itse'npat stymsmop are sev,ree htye msut evah a md"elr"i nvroeis fo teh sdeesia g.e.( dlanahiocpraos is loas ostulaaom oidamntn and is llhtae if uyo etg het smyhzoguoo o.fmr)

yOvbulios emso gbi lpsea in nrneoasig heer btu a'tsth noe phta to the ihrtg serawn

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victor_abdullatif etdi 1:# edam a pty.o maetn to yas h"et 'peastnit mymotssp are NOT svrr"eoyer es oubat tath! +

l0ud_minority sYe I odtn' ddrneausnt yhw the HCMC is lornma taht is tlsli otn ahwt is c.tpdeeex I wihs MENB eirdovpd narwes esky adn tdcie ehitr rcoessu fro rehit nati.arloe +

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+1 upvote downvote
submitted by sciguy(1)

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HS si oultsamoa naomtdin, tub stiihxeb ipnoceemlt rnentpac.ee oS eh dah on edrcro fo plosaenr aimly,f utb lltis eilykl eseogyhu.ztr

Wepd)i(ikai The alnccili ivrsetey fo SH viaesr fomr oe-ymrfmepst rrireca to rvesee lohsmiesy eecusab eth ddoserri thxsbiei eoptlcenmi cpreeeatnn in its xn.posieres

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ibestalkinyo hiTs si ahtw hewrt em of;f I rudgfie iwht 2 fnfeetudac at,erpns t'si emro llykei eh hda na osmlutaao seriecsev t.oanmuti +1

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+0 upvote downvote
submitted by ∗strugglebus(189)

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uAot dom dessiae are auslluy ogrtozehuyse (or os yeth awtn us ot a)ussem

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xxabi wHo do uyo wonk si oamtalsou iannod?mt +3

scpomp Hedryrieat oytspehocsrsi +1

fshowon nIts the eamn lurrccoausp mbnegolohi rtoianoecntnc snciereda ni htoosypsc?seir asTht htaw hhgutor me fo.f +5

charcot_bouchard e,sy wodlu eb nic in perv EMBN. Btu htsi is btshtia benm 20. U ehva ot dityefni preeohysstc htiowut nartcle aoprll ni FPB +4

charcot_bouchard ,yes woudl be cni in rpev BM.NE tBu stih si hattsib menb 2.0 U hvae ot yinetidf crehpyostse owuhitt rctanel rloapl in FBP +

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+0 upvote downvote
submitted by ∗sunnyside(2)

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Cna ayoenn isjfyut why they ddi nto iecdsbre na eenracdsi C?MHC FA 0921 ayss yhistorspcsoe sha ighh C,MCH adn hety idd tno even ahve it no eht uerpp nde of ln.maor

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