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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heT ilgoystho is of etohspsrecy m(slla iaplechsr eclls ow/ ecnrlat l).raolp aieyetdHrr eorsitspchoys si eud to dtcefe in tsoirpne gtanrnietic thwi CBR rmebeman tseklnoe nad sapmal meaemnrb (riky,nan dbna ,3 entripo 4,2. erpscni).t oMsytl umalasoot inamtdon iceiranehnt o(s thusgrozeeoy atimtuon ncsei oyu ylno edne eon tumtna lallee to tge the edsai.)se

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wuagbe oT dda ot :siht hogsoomzuy SH espntsre ihwt ilhssymeo eenv in canbees fo srstosrse. ihts tenipta is loyn pgnseienrt iwth alpe i,nsk adn ereth era no sscihtcetyso on het haprpeleri amrse, so s'it a soeghrueytoz nrkainy t.uotianm +9

pg32 I tadnwe to ipck rdhteriyae poerithcossys btu the aemn ruauccopsrl ontnceacroint swa lornam dna I tohhgtu ti asw ssdppeuo ot be dev?lteae sl,Ao ywh rea teerh os nmay CRsB ttha aer ayw rebgig thna eth hteysrec?sop +8

nephroguy I'm gimussan ttah eth CCM si anmlro bescaeu hte eipntta is ogohuyeetrsz rfo .SH otN srue if isth is trocrec, btu htta asw my hhuottg rcepsso +1

draykid erA ehetr nay srppea ttha ielpaxn hte fnierdfcee in psnoirseex of gsumozhooy sv geyoeortuzhs ?HS +25

waterloo I ondt' onwk fi ttha astrtme sa hcmu, elki eht peynophte rffncedeie of osuhmyogoz or ytsezorogehu fro itsh qien.sotu neiSc uyo lnoy dnee noe lleela ot ohsw siht, play d.dso Is eh mroe likyle ot vahe AA ro Aa. Ttha saw my uthgoht sos.perc As lo fi uyo see yhsesoeptcr uyo'd be inggo rof knianry gtrhi, ont Bioblng- bc ttah lhdsuo be target cells - rsergedlas fo .MCHC +1

alimd sa I eemrembr DA rea lsawya hregeyszut.o eseucBa uozoosgmhy are yaslwa lhel.ta +5

+4 upvote downvote
submitted by xw1984(8)

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I got iths Q n.worg I asw dreniwnog yhw shti inpteta h“as no lsoepnra or flymai ystohr.”i Heieryrdat toshrpicesyso hosuld eb a DA ,sadeeis ,os laeenrlgy isnakpg,e htsi izd odshlu eb esen in ecah ngta,eronie itg?rh

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step1soon I wsa niikntgh teh !smae +

wuagbe aleverS seeincgt oeisnquts on 0BMN2E aarpep to eb girtyn ot rhtwo su fof yb ggacnhni the oicirnstesdp fo ,eciirntaehn vinalge su ot mausse intemolpec n,ertencepa shm. +

+3 upvote downvote
submitted by ∗dr_jan_itor(87)

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nCa naeony snarew hwy shit eno 'tnca be .F atBe haetiaalms maor?j I aws ikitnghn ausebce of sih eaanmi adn hte naorpe"ue setc"dne hcwih cuslnied eth adniniarteme rsun.eepao sUnsle BNEM iretwrs knthi atth oeapuern oyln nseam teh osen iwht atxre white eepolp llo

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dickass opuEanre mipslie rnetrohn anuepero yet(h eevn decfspiie the attipen wsa a rensop of a)pl,orl eeratndniemar ecestnd si alluusy mleipdi by oyrntuc of norgii ro by stgoaiuh-rtt giinwrt rdannmer.eia't'e +

poisonivy heT MCV si ,mnrloa lhssaasaiemt era iccoiytmrc es,maian that htin heslp ot erlu otu teh aesaahtlss.im H,eerovw I tgo it rnow,g ton ures hwy ti onatcn be a oomuhysgzo uiamtotn in het knrniya gnee +2

adong ,siopinvo@y torhe etnmocemr iepdtno otu st'i ooslmtuaa ntmiando so tsbe awners dowlu eb ohysetgrzoeu +

+2 upvote downvote
submitted by ∗victor_abdullatif(10)

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I tnikh eth key to thsi oqutneis si ot esu itimnlniaoe ofr tasfc thta we wkno fro eurs. Teh rsfit is that tis' a oinyccotrm mn,aeai os all eatahisslmas ear reul otu sienc lath = rimytciocc.

Taht easevl A nda .D eSnic the CMHC is nlaorm hcwhi( si tno whta ew ulwdo pectex rfo eiyhtdaerr y)oertsphocssi adn hte 'pttsneia pstsmoym era v,seere eyht mtsu heva a "dm"rlei vosirne of hte esiseda .g.(e nlhcaiasrooadp si lsao oaouslmat atinmdno dna is allteh if uoy get hte osgozhmuoy f.o)mr

oyvlbOius omes igb alpse ni igonarnse reeh btu 'sthat eno hpat ot het hrgit wernas

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victor_abdullatif ited :#1 emda a ty.po naemt ot ysa "eht tne'atpsi spsotmmy rae NOT "sye rresvoer touab hat!t +

l0ud_minority esY I tnd'o saentrdudn ywh the MCCH si moalrn thta is ltils otn ahtw si ex.ecptde I ihsw NBME dpvdrieo nawres syek and detic tehri ssocuer fro thier .iatenralo +

+1 upvote downvote
submitted by sciguy(1)

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SH is mtuaasloo ndm,otani tub hsexbiit ipomctelne aernc.npeet So eh dha no redcor of pasolern m,yfila utb tlsil ekilyl yteoghrezs.u

()iekiWdiap heT liccilna reeiytsv fo SH iversa ormf ymtsrop-feem rareirc ot eeevrs sleshimoy esbcuae eth ieosrdrd hxbiteis lpoetcmien pcanteerne in tsi x.seirpesno

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ibestalkinyo iThs si ahwt hrwte me o;ff I rufdegi thiw 2 deetnfaucf ae,stpnr ti's omer likyle eh dha na aoutosalm eiesrcesv nit.amtuo +1

+0 upvote downvote
submitted by ∗strugglebus(189)

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uAot mod sisdeae rea yslluau rteoszugheyo or( os eyth wtna us to sesaum)

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xxabi woH od uoy wokn si oaamuslot itdn?noma +3

scpomp ietaeHdyrr ycehoorssstip +1

fshowon Itsn hte eanm uuapcosclrr imelbgoonh aoonetrnctnic cseiradne ni yispsocsro?the tahTs hawt ughorht em ff.o +5

charcot_bouchard sye, wlodu be cni ni vper NEMB. tuB iths si shtabti bnem .20 U aveh ot dinfiety orheysstcep uitwtoh rcaletn lrploa in PFB +4

charcot_bouchard e,ys owuld eb icn ni epvr N.BME tBu thsi is attbhsi embn 02. U aehv to iifnytde ceesposryth otwiuth rcntale plrlao in BFP +

+0 upvote downvote
submitted by ∗sunnyside(2)

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aCn ynaone iuftyjs hwy yhte ddi nto dciesrbe na cdeseiran CHM?C FA 2901 ssya shctosrosepyi ahs ghhi C,MCH dan etyh did tno even aevh it no eth prpeu dne fo .ralomn

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