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

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 tslyohgio is fo orscpsehyet malsl( shrplaeci eslcl w/o nctlaer rploa.)l Haerietdry seorstypochis si edu ot fedtce ni otspnrei etaiirctnng whit BCR aebmemrn kentesol and lasmap emnrebma rny,ia(kn ndba 3, rtnieop 2.4, e.incsp)tr Motysl oasamluto mtinaodn niaetrniche so( sozghtuereyo ttoaimnu incse oyu olny eedn one utnatm leaell to etg eth d)ea.ises

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wuagbe oT add to hi:ts oohougymsz HS sreptesn twih lhseyioms eenv ni bcsneea fo .sotsssrer htsi inaptet si lyno nipgsetnre ihtw ealp snk,i adn etrhe era on sisycosthtce no the erarpiplhe sa,rme so t'is a eysohgteoruz yannrki .tomnitau +9

pg32 I neawtd to pkic ahreityder shesiroostcyp btu het mnae rsorcucapul rctotcianonne swa ranmlo dna I hotghtu it was sudppeso ot eb tdeae?vel lo,As wyh era erteh os aymn BCsR that are ayw igrbeg htna eht coyeht?ssrep +8

nephroguy I'm sismaugn thta teh CMC is rlnamo cbsaeue eht tnetpia is rszeeyuotogh ofr .SH Nto esru if sthi si erco,ctr tbu atht saw my thhutog scpsroe +1

draykid erA eerth yan eppars tath eapnxil the ficnedeerf ni senespoixr fo ohgmsuzyoo vs etogehyzorsu S?H +25

waterloo I 'dton nkow if htta trsamet as ,ucmh ielk het onpyheetp deefcnefir fo msouohogyz or yueozseohgrt for tish itunesoq. eicSn you noyl eden noe lleale to swho it,sh apyl ds.od sI he orme llekyi to vaeh AA or .aA tTha was ym uohgtth crs.pose oslA if you see rtssoheyepc y'duo be oingg for ykanrni h,rgit nto -Bnibolg bc ttah dhsuol be ategtr lscel - sraesdgrle fo C.MCH +1

alimd as I ermrbeme AD era lsayaw sgoreh.ytzeu suceaBe mhyszoogou era ylwsaa ae.hltl +5

+4 upvote downvote
submitted by xw1984(8)

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I otg sith Q og.wnr I was edinwrgon wyh tish aetptin hsa“ no onapeslr ro iylmfa t”oiryhs. rHryeaiedt eishocosrsytp lodhsu be a DA esdasei, ,os gelnaylre si,aekgpn isht diz luhdso eb nese ni aech eoeian,tnrg ?irhgt

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step1soon I swa inkghtni eth msa!e +

wuagbe lvareeS sgitcnee ioquestsn on 02BNME earapp to eb ynrgti ot trohw su fof yb giannghc eth rnecodpsisti of neatnh,ireic gevalin us ot euassm eeipntclmo ee,ancerntp mh.s +

+3 upvote downvote
submitted by ∗dr_jan_itor(87)

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nCa ynnaoe wnrsea wyh this eon ncat' be .F atBe itsaelmhaa j?moar I asw gnkhtiin eusbeac fo hsi inaeam nda teh erneuaop" n"estcde hwcih lensucdi teh nnmeidierata e.orenpsau sleUsn ENMB rtesrwi hktin ahtt oeupnrea oynl ensam hte eons whti aetxr wieth leepop lol

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dickass pnaorEeu eisimlp oetrhrnn nepreuoa hty(e vene csepiefid the ntiepat asw a nersop of )orl,pal mnitrardaenee nsdeect is uasully idmielp by trcynou fo oignri or yb ruiahtgtos-t wiintrg mdrne.rnaa'tie'e +

poisonivy Teh CVM is mrlao,n hstesmsiaaal era imcicyocrt aaems,in hatt tnhi lhesp ot elur uto teh hs.lisetsaama ovewH,re I tog ti ,nwogr otn urse why it ctnaon eb a omgoyhzsou oituatmn ni eth ankyrni nege +2

adong nyspoov@,ii ehotr oemercmnt ptoidne tuo sit' auloaotms ionmatnd os bset sernwa wulod eb geohzoseytur +

+2 upvote downvote
submitted by ∗victor_abdullatif(10)

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I tnihk eht kye to siht oquitsne si ot seu ntiniaileom rof tfacs thta we know for sre.u hTe firts is tath s'it a ritoocnymc ,maaine os all altsahasmise era uler tou necis lhat = omic.rciytc

aTht lseave A dan D. eicSn the MCCH is alomrn c(hwih is nto ahwt we udlwo cptexe rfo tydaierhre yisehrc)osstop dan teh pntaits'e mtsmpsoy are r,seeve htye utms hvea a "l"imred isroven of the daisese (g..e rnasohaalciodp is lsoa tomlsaaou madtinno and is lthela fi ouy tge hte mgosoyhzou )rf.om

lObvsyoiu smoe bgi apsel in gseinnaor eerh tub ths'at eon phta ot het hrtgi snarew

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victor_abdullatif edti #1: emda a .yopt atnme ot yas eth" pts'tenai tpysmmos rae NTO yesrev "sorer autob htat! +

l0ud_minority esY I tndo' dasendntur wyh the CMCH si mnraol thta is tsill nto hawt is c.xtdepee I whsi NMBE orveidpd rasewn skey and ceitd hiter erocssu orf rithe aoni.ratel +

+1 upvote downvote
submitted by sciguy(1)

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SH is lsaoatoum oimn,nadt but xetihbis npilteecmo cnapnet.ere So eh had no dcroer of psneralo yfami,l but litsl yiklel uro.ethezgys

eikpW)ia(id Teh iinacllc rysitvee fo HS arsive morf rtese-yopmfm arrreic to vreese solesihym uceeabs hte idrrdsoe bhsxieit eomelitncp acerenpnet in sit nopseri.xes

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ibestalkinyo sTih si twha wehtr me f;fo I fgriedu iwht 2 ndctefueaf pnsrae,t 'its eomr iykell he had na tmouaosal rsciveese maut.otni +1

+0 upvote downvote
submitted by ∗strugglebus(189)

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toAu dom isdasee are uylulsa gyosuerhzteo o(r so hyte ntwa su ot sm)ause

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xxabi Hwo do uyo nkwo is atmoulaso ditnanom? +3

scpomp tredHyaier ioprtsoeschys +1

fshowon tIsn eth anem usrclrapocu noiolbmheg eitnrtconcano aicneders ni seiryoo?tspsch Tthsa hwat hgorhtu me .fof +5

charcot_bouchard esy, lwoud eb icn ni vper BE.NM tuB sith si btatsih nbem .02 U vaeh to ftyiendi reshpscetoy otuhwti ntlrcae arpoll in BPF +4

charcot_bouchard esy, wodlu eb cin in vper N.EMB tBu htsi is hsatitb mneb 0.2 U avhe ot tiedynif htesroesycp totuwhi acelrnt allpro in PFB +

+0 upvote downvote
submitted by ∗sunnyside(2)

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anC nyeano utfyisj yhw etyh ddi otn dbreeics an dicansere CHC?M AF 1029 yssa corihtssespoy sha high CMH,C nda yhte did tno enve vahe it on eth erppu dne of amrol.n

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