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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Teh lioohystg is fo shyrectepos (smlla rsiehpcal lslec w/o elctanr ).lrlopa reeytaHdri ictosphyseors si deu to ftecde ni stoenpir icnaietngtr wthi RBC rmemnbae lensoetk nda aasmpl ammrneeb naik,yr(n andb 3, nipreto ,2.4 c)tsi.npre lstMyo auaosltom oadtnmin eranitecihn s(o rohsuzegotye uamotnti ncsie you lyno dene eon unattm lallee ot tge eth dsee)ai.s

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wuagbe To add to :this zoyusomgoh SH etssrnep itwh sohyilmes neev ni bneaecs of rosr.tssse shit npetait si yoln nstrneeigp thiw alep n,ski nad rteeh rae no sstcitsochey no het peiarlpher smer,a os s'it a tgseyoozuerh nakryni .tounimat +9

pg32 I wendat ot pkci eirdrhetay rseytsshcoiop utb eht mena upccurarols ntiecaornntoc was rnmloa adn I thghuot it aws dussppoe to be eeatledv? A,slo ywh rae reteh os nmya RsBC atht ear ywa ggebir hant teh ecshspoetry? +8

nephroguy m'I usigmsna atht the MCC si onlmar eecsbau hte neattpi is oohyregtuezs fro S.H Nto usre if hsit is ,rotccre utb ttah was my tgutohh scpoers +1

draykid Are erhet ayn rsaepp ttha eplixan het nidrcfeeef in xsieernosp fo zshomoyuog sv ohgetzyrsoue ?HS +25

waterloo I n'otd okwn if that etartms sa ,umhc klei eht yehntppeo ieefcefdnr fo mogoyzhsou ro zuteygoosreh rof tish oiu.etsnq Sniec you nyol ndee neo leaell to wohs ihst, lpya sd.do Is he emor lekily ot vhea AA or Aa. aTth swa ym tutgohh eoscrs.p osl A if uyo ees sopetehyrcs o'uyd be ggnoi orf kinyanr h,rtgi ton noBilbg- bc thta hudslo eb ettagr lclse - dslgeerrsa fo CMH.C +1

alimd sa I ermmerbe DA are swaaly yhurgesotz.e uaeseBc ozyogohsmu aer yaswla lhea.lt +5

+4 upvote downvote
submitted by xw1984(8)

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I ogt hits Q ngow.r I asw ndieongrw wyh itsh pittena as“h on rlpeaons ro flamiy so.”tryhi eiryHaedrt rspoyscsteioh holuds eb a DA ae,dseis o,s ngleeyral g,ekaspni isth idz dulhso be sene ni heca ,gioaennret gihrt?

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step1soon I saw ignnkthi het saem! +

wuagbe Saerlev ncesegit tiuesnsoq on MBE2N0 eparap to be rtygni to trwho su fof by nnghaigc eth siipdrctneos of tcanni,heier anlvige us to eassmu eteomlcipn eptacere,nn sh.m +

+3 upvote downvote
submitted by ∗dr_jan_itor(87)

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nCa oynaen warsen hwy iths eno nt'ac eb F. aeBt aismtealah rmjoa? I wsa tnknhgii aceeusb of sih inmaae dna hte eu"opnaer cee"dnst hhciw dliuscen eth aaitdeinmern s.rnpuoaee slUnse NMBE esritrw nkiht ahtt renoaupe lnyo nesam teh oesn itwh txrea itehw eepopl llo

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dickass eaoEnurp ilismpe rthenron aprnoeeu hte(y veen cdseeipif teh aptient asw a porens fo lrao,)lp emtrdraaninee escetdn si yusallu mdilpie by curnyot fo rioing ro by tsgaihotut-r inrwtig 'trr.enedaaenim' +

poisonivy eTh CMV is aolr,mn ssisalahmate era ccociitrym aieam,ns that ihtn phesl ot luer uto the ssiltaaas.hme eHwoerv, I otg ti gorw,n nto esru why ti cnnato be a gsuomyohzo ntmatoiu ni the rnynaki eegn +2

adong piiyosn@o,v rhote cmteronem pdtoine out t'is aoaulmots adonnitm os ebts eswran dwuol be hoezsegyortu +

+2 upvote downvote
submitted by ∗victor_abdullatif(10)

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I hktin the eyk ot stih qeistuon si to eus ioeitilanmn rfo castf htat we nkow ofr u.rse ehT frsit is atth ts'i a ctocrnomiy miaa,ne so lla tasssaimelah aer eurl uot insce hatl = ccmc.oitiyr

Tath aevsle A nda .D iceSn eht HMCC is lomrna wchih( si ton htwa ew dolwu execpt ofr rhedtrieay csosietohsrpy) adn eth tt'iaepsn ossymmpt ear ,evseer hyet tusm vaeh a mel"dr"i nsireov fo hte aeessid .(ge. oplrsaodaicahn si loas loutamsao mntonida nda is lhlate fi uyo gte hte szyogmohou r.ofm)

ylvsObuio smoe big sepal in oeannisrg eher tub 'sthat one thap to teh gihtr wsrnae

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victor_abdullatif etid :#1 adem a .toyp mtean ot ysa h"et 'tapitsne osmpysmt rea NTO ervrrs"eeosy buaot taht! +

l0ud_minority sYe I nod't dsuaetnnrd ywh het HMCC si nrlamo atht is tllsi not twha is tpdcexe.e I siwh MBNE rdevpiod snewar keys and tceid trhei uoscsre rof teirh laetinoar. +

+1 upvote downvote
submitted by sciguy(1)

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SH is stomuaola ondmnia,t tub tiixbseh lpmencoiet eeeac.ptnnr So he had no dcorre fo opslraen ,laymfi tbu llsit lileky sget.zuerohy

ea(iWi)kipd Teh inllcaic tvresiey of HS isvera fmor mesrotp-emfy ircaerr to seeerv iomlhsyes subeeac eth dridsroe sbhtieix ntoimcpele eantpenrce ni tsi nr.peixesso

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ibestalkinyo Tsih si awht erwth me ;fof I egfriud iwht 2 aufnfteecd r,npsate 'tsi ermo elikly eh adh an taolaomsu esrcsevei tatu.moni +1

+0 upvote downvote
submitted by ∗strugglebus(189)

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uAto dom iasedse aer asluluy eotzhusyreog o(r so yeht ntaw us to smause)

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xxabi woH od yuo nowk si otaoulmas anmnt?odi +3

scpomp Hriyreetad tepyosisscorh +1

fshowon nstI the mean rcpauosurlc loimghoebn tocctrnnoaien dcresiaen in ithesyoo?csrps taTsh twah tghohru me f.of +5

charcot_bouchard ye,s ludwo eb inc in rpve .EBNM uBt hits si taishtb embn 2.0 U aehv ot tnieyifd rpystoeecsh hutotiw lracnte pallor in FPB +4

charcot_bouchard ys,e owldu be cni ni prev .MBEN utB hsit si hisbtta bnme 2.0 U ehva ot iftndeyi yhseeropcst otiuthw talenrc raolpl in FPB +

+0 upvote downvote
submitted by ∗sunnyside(2)

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Cna aenyno usfyijt why ehty ddi nto sdeirceb an csardniee MHCC? AF 0129 ssya pishrsoyeocst hsa hgih CCHM, adn yhet ddi not vnee heav it no hte eprpu nde of aomlr.n

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