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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hTe gsolotyhi si of eprehtsycos (smlal caslehpri sclle /ow celnart )laoplr. rrytaiedeH sysotecphoirs is eud to fcetde in prtosnie ritcaignnte twih BCR anerembm ostlekne nad ampasl enebmmra niknyar(, nbad 3, neptrio .2,4 .et)pricns yolstM lmuoatoas nimntdao ictnnereaih (so utzgohseyore iuattnom nseci ouy oynl eedn oen ntmtua lellae ot tge het se.e)idas

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wuagbe To dad to :htis gyouoshzom HS tnprssee hitw lmissohey enve ni neaesbc of e.rortssss this iaptent is olyn ngtiprenes hwti laep ik,sn adn rheet aer no hssytcecotsi on the ralprehiep ar,esm so i'ts a rtguoeyoszeh nynarki inu.tmota +9

pg32 I ewndta to kcip riethadery opscsiyhostre ubt hte mnea rpoclcsuaru cnaieoncnottr wsa manlor and I tughhot ti swa odseuspp ot be d?leevtea o,slA why era rethe so nmay RCBs htat era ayw brigeg ntah teh ees?yohsrcpt +8

nephroguy mI' signsaum atht teh CCM si lramon seebacu eht panteit si trzhoeyeusgo fro S.H tNo rues fi tihs is cerrotc, tub ttha saw ym httuogh eopsscr +1

draykid Are ether any aprpes ahtt naxiepl eth efedifrcen ni roniesepsx of mzyooguohs sv oughzrtyseoe S?H +25

waterloo I dto'n wonk fi htat tterasm sa uh,mc klie eth eynthoppe eeicnefrdf fo uooymzosgh or yghteuozrseo for tsih ntq.esiou cniSe oyu loyn need oen leaell to ohws ,hist lpya so.dd sI eh orme yilelk to veah AA or Aa. Ttah saw my utotghh .sorpecs os Al fi you ese esretcphsyo o'ydu be oging rfo kirnayn hritg, ont -ilgnboB bc ttah usdolh eb ttrgea elcls - elserdsgra of CCH.M +1

alimd as I mebmrere AD are salawy uhgret.zeoys eeauBsc suygzomoho era aslwya a.telhl +5

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+4 upvote downvote
submitted by xw1984(8)

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I tog tihs Q .orngw I wsa ownegnrdi wyh iths tiaentp h“sa no alnrpose or lmiafy s”yrto.hi irerdeyHat sosehtopcysir shudol eb a AD daeess,i ,os agnylleer psg,ekian tshi diz duohls be sene in caeh ngnaeor,tie ?rihgt

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step1soon I wsa hntiknig teh sem!a +

wuagbe rSaelve steginec ionssteuq no N2M0BE eappra to be trigny to rthwo us off yb cahgingn eht sdpcintisreo of caithnirene, aglevin su ot sesuma pnemoltcie renpe,tcnea msh. +

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+3 upvote downvote
submitted by ∗dr_jan_itor(87)

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anC nnoyae ewsarn why tish neo atc'n be F. aetB hisamealta j?ramo I asw nihinkgt bsceuae fo ihs inemaa adn eht nepeorau" ncedtse" wchhi cldeisun eth iatridnamene s.uponaere lenssU BNEM rrtewsi hknit ttha ruoeneap lnyo eanms the noes wtih raext whiet opeple llo

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dickass peEuonra lismpei netnhror oeenaurp ey(ht vnee fpdisecei the nitpate aws a oprnse of prolal,) eeeamianntdrr sdenetc si luualys ilmipde yb utycorn of rniogi ro yb gtttrih-sauo gniriwt mrn'.trneadie'ae +

poisonivy heT VMC is r,lmnoa sasiaalshtme ear oiryctcmic i,anamse thta ihnt sleph to rlue otu the atsaie.lmahss w,evorHe I tgo ti onrw,g not reus wyh ti tcnnao be a gozysuohom nmutiato in het nayknir ngee +2

adong yivnos,i@po toreh menrtcmeo idtoenp uot is't luomoatas oitdanmn so tseb nswaer oudlw eb ogeshetrzyou +

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+2 upvote downvote
submitted by ∗victor_abdullatif(10)

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I nthki eht eyk ot sith esuoqnit is to eus taineliimno for tsfca that we ownk rfo suer. eTh tisrf is that 'its a coiymrncto n,iaeam os lal ieahsstalams rae leru otu eiscn alht = icmoitry.cc

thTa vleaes A and .D ciSne hte HMCC is mloanr c(iwhh is otn awht we oudwl cpxeet fro eahirdryet epytsso)ohsicr adn hte eaint'pst sosmyptm are eveesr, hety sumt evah a dmil"e"r neorisv fo hte ieaessd ge(.. aispdonroaalhc si lsoa tmlsuoaao odiantnm dan si hltlae if oyu teg teh yuozmgsooh m.)ofr

busyloiOv smoe igb epsal in regainson here btu tath's eno ahpt ot het rgiht ewarsn

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victor_abdullatif itde :#1 mdea a .oytp mtena ot sya the" nsepti'ta ptyssmom ear NTO serv"y rseroe baout tat!h +

l0ud_minority Yes I od'tn rdunentdsa wyh eth HCMC is oarnlm atth is lstil ton hwat is ee.dpectx I whis NBEM oevrddpi nwsrea ksye and cdiet hreit rsusoec rfo ierht aeoltanr.i +

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+1 upvote downvote
submitted by sciguy(1)

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HS is atosoualm ,ianmnotd tbu exthibsi telmpenoci ete.nenrcpa So eh dah no rdoerc of aloserpn lmfia,y tbu litls elilky ytezse.rohug

ia)(Wpeiidk The ilnclica eyvrtsei fo HS verais ofrm mrsemtefo-yp arerrci ot eersev yelmssoih sbuceea het odesdrir isbtxieh tmpioenecl ntreepecna in ist isr.sxpneoe

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ibestalkinyo hsTi is tahw trhwe em ;off I ifrduge hwit 2 feeuafdcnt naetrps, ti's omre ylkeli eh had an uamsoalto seveeirsc iuotam.tn +1

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+0 upvote downvote
submitted by ∗strugglebus(189)

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otAu dmo siesead rae alysluu rhuygszoeeto (ro os ehty tawn su to )seumsa

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xxabi oHw do oyu wkon is lustoaoam inot?ndma +3

scpomp yrdHeietar hsoryspoicets +1

fshowon Inst eht enam rslproacucu obonmhigle oactncntenrio raneidcse in yic?tsehposrso hstaT whta rhuhotg em ffo. +5

charcot_bouchard sey, udlow eb icn ni evpr NMBE. Btu isth is hattsbi mbne 02. U aehv to iyfidnte rtopsyhecse utotwhi lntrcea ollapr ni BPF +4

charcot_bouchard se,y douwl be inc ni erpv EM.NB Btu tshi is histbat bnme .20 U have to dtieyifn oesyrphtesc thwoitu rnaltce oplarl in BPF +

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+0 upvote downvote
submitted by ∗sunnyside(2)

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Can enaoyn siufyjt yhw htye did nto ercbesid an edicresan C?CMH AF 9201 ysas ssethiosoprcy has high ,HCCM nda yhte did ton enve veha it no eht uerpp dne fo n.marol

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