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

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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+23
submitted by ∗thomasalterman(179),

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eTh atpietn ash TNA narosyecd to rlnae iachism.e eDu ot rultabu sn,isoecr hte enpitta will ahev an datleeev NeaF. ehT psetanti' eurni will also eb ed,iult utb sthi lilw eb erdceflte yb teh low ruine llimoy,asot ton teh FNea

+14
submitted by ∗nala_ula(126),

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eTh looystigh si of esyrhtcpeos alm(ls cpesrhlia lscel o/w acentlr pall.r)o erdaHtiyre oestpshroicys is ude ot edftce ni nirtpeos aiircngtent whti CBR eanmremb telsenok adn aasmlp mrnaebme knny,ari( adnb ,3 oprtnei 42,. .n)petirsc tlMsyo ooaumlsta aoditnnm ciehnrinaet (os ysoertezghou tntmouia cinse uoy olyn eden neo uatnmt lalele ot get the s.adeis)e

wuagbe To add ot sth:i ghoszuyoom SH snrtpsee htiw mhilyosse eevn ni aecesbn fo sterssosr. shit atnetip si ynol egiprtenns twih elpa snki, dan heert rae no chsotciysset no het prleairpeh emr,as so i'ts a zysurehgtooe iknanyr oimun.att +9

pg32 I dntawe ot cpik idyaehretr citosphssyoer but eht nmea prsrcualouc nainonccrotet swa lomrna nda I thtguoh it wsa uesdopps to be a?telvede los,A wyh aer tereh os yamn BsRC tath rae ayw riggbe than het cstoepy?rshe +8

nephroguy mI' usmiansg atth hte MCC is nalrmo eaucesb hte ptaietn si tyheurzoogse rfo H.S otN eusr fi tsih si ertoc,rc ubt atht asw ym uhtoght rsspceo +1

draykid eAr tereh yna sppare ahtt nxelaip hte ifcfedrene in pesenisorx fo mshzugoooy sv ezuegtyohsro H?S +25

waterloo I dnto' nkow fi ahtt mtaetsr sa mh,cu like eth teeppyohn nfdfrcieee fo zyuoghsomo or orheezoustgy orf hits ntu.isoqe ncSie you ynol eden neo elalle to wsoh ht,si ypla dd.os Is eh eomr yeklli ot ehav AA ro A.a thTa was my ttuohgh .orpessc Aols fi uyo ees stoeshycper u'oyd be inggo rfo yaninrk hgrt,i ton bgiBnlo- bc htat lhouds eb grteat sellc - dslrraeges of H.CMC +1

alimd sa I reemmreb AD aer alwsya rtyzue.eogsh euBseca syoomzouhg era aayslw lahtel. +5

+4
submitted by xw1984(7),

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I tgo siht Q ngrw.o I asw nwodrnige ywh htis pentiat ha“s no slorneap or lyaimf tory.”his rreHtyidae oroespssiythc odsluh be a DA seae,ids so, neleyrlga p,snekagi hsti idz shduol be esne in chea iennaotreg, h?gitr

step1soon I saw tiigknnh the seam! +

wuagbe eaSvelr ngiceste qntisoesu on 0NMB2E aperpa to be gnrtyi ot rhotw su off by ghncanig hte insireopsdct of eanrhc,ineti ienvgal su ot essuam nmiepctleo erenpte,cna h.ms +

+3
submitted by ∗dr_jan_itor(86),

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nCa onayen nasrwe yhw tish neo nac't be .F tBea haialesatm ?joamr I wsa nigtkhin bceesua fo hsi nmaiae dan eth "epeanour d"sctnee ihwhc usnldice eht miinrtdneaea e.unapores sUlnes BNME istrewr tihnk htat nrpaeeou ynlo ensma teh nsoe itwh exrat eithw lpeeop lol

dickass eurEnapo plmeisi honnterr ueeonpar th(ye enve fepsedcii eth aettipn asw a eospnr of plar),lo aedenmranrtie neetcds si aullyus dpieilm by nrotyuc of ngioir or by rst-thuiotag tiwrgin er.ie'drmtn'aaen +

poisonivy eTh CMV is lmon,ra ssitlhsemaaa are yircccitom mains,ea atht hnit slhep ot uelr tuo eht stmsih.aasael evwHr,oe I tgo ti rog,nw tno urse why ti octnna eb a oyshzuoomg tnmtuioa in the nrakyni eneg +2

adong ,visi@oyopn tehro tmerncome otdipen tou tsi' toaauomls itoamnnd so setb nsrewa lwuod eb oushgrezoety +

+2
submitted by ∗victor_abdullatif(10),

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I thkni the eyk ot hsit nitsuoeq si to ues itmlieanoni rfo tcafs that we nwok rfo ers.u The rfist si ttha sti' a ioytcocnmr naime,a os lla eatamsiahsls are ruel tuo isnec laht = .rccocyitim

Taht aelvse A nda D. Sneci eth CHMC si olrmna hw(ich is nto wath ew wloud etcxep ofr iatrhryeed psosotescrhy)i dna eht tisnt'aep smptmyso era r,vseee tyeh tsmu have a "de"riml onsirev fo het idseaes .g(e. pcorahdnisaloa is asol laouostam nimdtaon nad si alleth if ouy gte the shzouyomgo .)omrf

lOyiuovsb smoe bgi seapl in ornsiange reeh btu tts'ha eno path ot teh trihg ewrans

victor_abdullatif dtei #:1 emda a toyp. aetnm to asy "teh 'ptntaesi osmtmyps rae NOT es resorv"eyr aotub htat! +

l0ud_minority esY I tnod' nretdnudsa yhw het CCHM si lomran ahtt si itlsl nto athw si t.ecxepde I sihw ENMB rvedpido earwsn eyks adn dicet ehrti rcoessu ofr ietrh altoi.nrea +

+1
submitted by sciguy(1),

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HS is ltuasoamo ,nnmdatio tbu bxethsii eotepnilmc .rnnaeeetpc oS he dah on rdorec fo serlopna fmy,ali but ltlis eyklil u.yeseorhztg

Wpad)(kiiei eTh lcliinac isrvteye fo HS avsier mofr to-mpyesmfre rreriac to esvere omhyselis abecseu the osdirerd sbtiehxi mloipcetne eercaenntp in ist xsseeopi.nr

ibestalkinyo hTsi is hwat wtreh em of;f I rieufgd thwi 2 tcadnuefef e,pnsrat ist' mroe yliekl he adh an asaomuolt cresvesei utton.ami +1

+0
submitted by ∗strugglebus(187),

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tAou odm siseade aer suylalu gruyteeoszoh (ro so ethy nwta us ot eassm)u

xxabi wHo od uyo konw is alouomats n?aomtdin +3

scpomp rHdiratyee isyoctserspho +1

fshowon nsIt the mnea crusorlapcu goonbmlhie otctiannercno iaeedcrns ni sisoeo?chtypsr ahtsT what rhgthou em ff.o +5

charcot_bouchard es,y woudl eb cin in rpev NBM.E tuB thsi si thsitba embn .20 U evha to iftieynd sepyheocsrt toitwhu clterna rllopa in BPF +4

charcot_bouchard eys, lwoud be cin in pevr BN.EM But hsti is iahstbt mbne 2.0 U hvea to dieiftny rtshcopyees uhttiow lnraect ollapr in PBF +

+0
submitted by ∗sunnyside(2),

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nCa naeony fyjitus hyw yhte ddi otn recsbeid an nidaersec MC?HC FA 1290 syas sitoopcshyres ash hgih CMHC, adn tyhe did not neev hvae ti on het perup end fo lro.amn