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 iohlyogst si of espryhoects almls( spchailer scell ow/ arltnec )lrpl.oa ieeHyrrdta eocyportsishs si deu ot etfecd in rosetnpi grcetntniai tihw BRC ebnmeamr seloenkt and apalms eamrebnm anr,n(yik bdan ,3 poetnir 2,.4 cipr)ntse. Moylts aoalsuomt amdtnino nihiaecetnr os( oeghszourety uiomnatt censi yuo oyln ened noe mntatu llleae ot gte eth iadee.s)s

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wuagbe To add to it:hs shomyugozo SH pstnrees thwi smholeiys vene ni acnseeb of .orstssesr shit ittpnae is noly pentesrgni tiwh alpe s,ink dna teher are no siestochscty on hte pirhepelar remas, os si't a ogsyzhroeetu rynanki tn.amouti +9

pg32 I tndaew to ikcp dyaihretre cpitshsoosery btu hte anem alopurrsucc artneonnctoci asw monrla nda I uttohgh it swa seopsdup to eb tvdle?aee lAso, wyh aer there so mnay sCBR atth aer yaw igrgeb nath het copyts?esher +8

nephroguy 'Im suamnsgi hatt eht MCC is nlraom abeusec teh eniatpt si szehutyrgoeo rof H.S oNt eurs fi htsi is rc,torec tub atht saw my ugohtht sopsecr +1

draykid rAe hteer yan spaepr hatt xalniep eth ffenideecr in reespisxon of ohozgyusmo vs toezoyreghsu SH? +25

waterloo I 'odnt kwon fi ahtt tmesrta sa h,ucm leki eht epphntoey feridefnce of gozmhyosou or ohestoryzegu rof hsit t.sqienou nceiS oyu lyon eend one aellle to wosh i,hts yalp odds. Is he remo llyeik to ehav AA or aA. That saw ym tohgthu rpoes.cs l osA fi you ees troceehspys 'douy eb nigog ofr nayirkn tigr,h tno -oilgBnb cb atht sloduh be gettar cesll - gsardsleer of CM.CH +1

alimd sa I mbeermer AD ear awalys o.gzshyreeut seBuace syzomougho rea laaswy atll.he +5

+4 upvote downvote
submitted by xw1984(8)

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I got hsit Q ogw.rn I asw gedrniwon ywh tihs ptentia “sah no lpnaoesr or ifalmy osyitr”.h rteyrdiHea esoscothisyrp osdluh eb a DA isdesea, s,o enlylaerg s,kgepnia isht idz dhlous be esne ni ceha nr,igetoane igthr?

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step1soon I swa intinghk het m!esa +

wuagbe eSvrela enigects itqsuosne no M0ENB2 rpapea to eb tgiynr ot hrwto su off by ghncangi eth sscdroenipit of tainr,eichne evginal us ot musase ceolinempt cnaetnrpe,e .mhs +

+3 upvote downvote
submitted by ∗dr_jan_itor(87)

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nCa aynnoe rewsan wyh stih eon an'ct eb .F teaB almaeithsa r?ojma I aws htkngnii usbecea of hsi meaani adn hte eure"npoa csden"te hcwhi nuldsiec teh rnieatemnadi e.upnoesra Uessln MNBE erwirts tknih that pneraoeu ynlo maesn eth snoe ihwt xtera ehtiw loepep llo

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dickass uanpeorE pismlie onrtnhre nueeorap hye(t nvee eecisifpd het tpiaten was a pesnor fo ,aolrl)p rteranaemnedi estecnd is uluyasl miepdli by urnyoct of riigon ro by ttt-giourhas rgtiwni inatrrea'mede.n' +

poisonivy The MCV is rmn,oal asmsetlashai rea imccotcriy niaeams, thta htni epslh to reul otu eht malsisheasa.t oH,verew I ogt it gwrno, ont seru wyh ti ncnaot eb a mhszouoygo totimanu ni het ykirann egne +2

adong pnyvio@,iso teohr ertcmemno optndei otu 'tis aumsoloat iantdmno os tbes sarnwe uldwo eb rooesuzehgty +

+2 upvote downvote
submitted by ∗victor_abdullatif(10)

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I tiknh the eyk to hsti suetoinq is to sue tlaoeiniinm orf tcfsa taht we kwno ofr reus. eTh strfi si tath its' a cmtnoyoirc namaei, so all smthesisalaa rea elru tou icsen laht = oyimc.tcirc

thaT sleave A dna .D neicS hte MHCC is rmalon ih(hcw si ont hawt we louwd xcteep for arrdyihete )hepsroioyctss nda hte pansi'ett stompyms rae s,veere eyth tsum heva a mli"re"d rsienvo of eht esadies eg(.. aolspraoianhcd si slao otsulamao mninoatd dna is tllahe fi uoy get eht gusohymooz r)m.fo

luivsbOyo smoe igb alesp in nigsrnoae hree utb astht' one tpha to het rghti ersawn

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victor_abdullatif eidt #:1 meda a p.yto amnte to sya the" t'aneptsi ysotmmsp rae TON oseyerrrve"s ubtoa !atht +

l0ud_minority Yes I tdno' tdearnsdnu ywh teh CMHC si ranmol ttah is lsilt nto awht si pede.tcex I hsiw NBME ddorvepi aesnrw skye nad idetc ihert rcossue ofr rehti ao.iealntr +

+1 upvote downvote
submitted by sciguy(1)

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SH si olasouamt adtnno,im but itixshbe lnciteepmo eep.nrtnaec oS he dah on odrecr fo eaornpsl imyf,la btu tlsli liylke zyor.teusheg

ikdaieWi)(p hTe aililcnc ysrievet fo HS airves rfmo pts-remeyfmo aecrrri ot reeevs emiysshlo useacbe eth dirsredo ehibitsx petnicloem eretnaepnc in its .pieeroxssn

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ibestalkinyo hsTi si awth wetrh em ;fof I iefdgru hitw 2 cfaedfeunt rpn,aste t'si mreo kelyil eh dha an uasoltoam ecveiress tmiut.aon +1

+0 upvote downvote
submitted by ∗strugglebus(189)

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Auot dom edeisas ear syalluu tzeosguheyor (or os ehyt twan us to uass)em

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xxabi Hwo od ouy knwo si aalsotomu dim?tanon +3

scpomp Hdriteraye rohpiscotssey +1

fshowon Itsn het nema ocsulpaurrc ghobimneol ncoanotetcinr acdensrei ni srstop?yehsoci Tthsa htwa thghrou em fof. +5

charcot_bouchard esy, odwul eb nic ni vpre EBMN. tBu hsti si tisahbt nmeb .02 U aveh ot yfindite pohrsseetyc othitwu celtnra oapllr in BFP +4

charcot_bouchard sy,e wloud be icn ni prve B.EMN Btu thsi is asbtith mben 02. U vahe to ifdiyten eetpyoscrsh owhtitu clantre palrlo in BPF +

+0 upvote downvote
submitted by ∗sunnyside(2)

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aCn nonyea yftujis wyh they idd nto cebiedsr na cainsrede C?MHC AF 9210 ssay issysthecoorp ahs hgih MHCC, nad hyet idd otn neev have ti no eth pperu ned of amln.ro

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