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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eTh hosltgiyo is fo tosrsehpcey smlla( repalsich cllse ow/ ealtrcn )olr.lpa irdteeHrya sphocrssieoyt si due ot dceetf ni eorsntpi aegtnitrcni thiw CRB anmmereb enoesklt dna lspmaa bmaeenrm n,kryain( dban 3, eotpnri ,.24 )cirsnep.t oMstyl aalotsomu ndtmanio rinihtceane os( srhyetegouzo auniottm icnes oyu loyn eden neo mntuat llleea ot teg het )dea.isse

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wuagbe oT dda to hsit: ysuomogzoh SH prtseesn wiht isoeslhym vene ni nscebae fo st.srosrse hsti tetanip is only nrsteengpi ithw eapl ki,ns dna hreet rea on iehcsscoytst on eht ariepprelh srme,a os 'tsi a yghrseteuooz krnnyia u.maitnot +9

pg32 I wtnaed to kpic hyeerdrita sehrypsocsoit but eht aemn rpucrsocula nctiarecnonot wsa rnomla and I utothgh it asw doppsesu to be aetv?eeld ,losA ywh are eehrt so ynma RsBC hatt era way begirg hnat hte yrspoths?ece +8

nephroguy m'I smnigaus hatt the CCM is lmnroa becusea teh teaptin is ogoeeuhtrzsy orf H.S toN reus fi shit si c,recotr ubt htta saw ym ougthht crsoesp +1

draykid erA three ayn rpeaps atth pnlxaie eht rcdeeffnie ni spxreniose fo mooyhsugzo sv oouetrgszehy ?HS +25

waterloo I dot'n wkno if ttha trmates as hc,um keil eth oeyephtpn dnceieeffr of uohyogzosm ro reestuhzyogo fro shit oq.isteun cSien you loyn need one lleela to hsow h,tis ypla .odsd Is eh mroe elliyk to haev AA ro aA. taTh swa my htoguht re.ocsps lA so fi uoy ese stcyheospre douy' eb niogg rfo kiarnny rgih,t nto i-nbolBg cb ttah udohls be ttegra ecsll - eslerdrags of .CMHC +1

alimd sa I rmebmeer DA are sywaal oyghrestzue. cuseaeB usmgzyhooo rae alawsy .hlltea +5

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+4 upvote downvote
submitted by xw1984(8)

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I otg tsih Q .gnowr I swa enwogdnir wyh hsti tepatin s“ah no ronspeal or yfilam irh.s”toy derteryHia hcrooepyitsss hdoslu be a AD diease,s ,so algeernly ie,nkpags itsh idz shudol eb seen in chae ioergnnt,ae rhgi?t

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step1soon I aws nkhtiing the sea!m +

wuagbe eaeSlvr gencitse qeosnutis no M2EN0B eaarpp ot eb yingtr to wrtoh us fof by gnncgiah the piensodsctri of nh,iaeenirtc nevilag su ot sasmeu pcioenltme nenaepetcr, h.sm +

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+3 upvote downvote
submitted by ∗dr_jan_itor(87)

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nCa nnayeo nesawr ywh stih neo 'tacn eb .F etaB aastlhmiae jamor? I asw nighnitk esbucea of ihs minaae and hte pnoru"eea tseencd" whihc usenclid het anradtimeine peue.onsra lnUsse ENMB iwrsret tkhin ttah prneeuoa noyl neasm hte nose whit atxre ihetw peeolp llo

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dickass aoEernup liespim hrntorne ueproena ey(ht even fidsiceep the etpanit saw a oprnes of aol,p)rl eneaearrnimdt sntedce is yuullas mdlpiie yb crotuny of ogrnii ro yb sgiuhro-attt nitrgiw rer'n'md.tinaeae +

poisonivy eTh VCM is lromn,a lmaiahsatsse era tmcrciioyc ea,sinma atht hint ehlps to erul uto teh .alaessmtihsa ,Heowver I tgo ti ,rwogn ont sure ywh ti ocnnta be a ohozygsuom tuntoima ni the niakyrn egen +2

adong yvopion@,si toreh nmemctreo dpieton tuo sti' atsamluoo mnodtnai so ebts raenws owldu eb tesuhegryooz +

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+2 upvote downvote
submitted by ∗victor_abdullatif(10)

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I iknht the kye to ihts ueosntqi is to esu inomiaetlni fro tacsf tath we wkno fro s.eru heT tsifr si ttah s'it a oicmcyntro a,nemia os all thsmeslasaia ear rule otu seicn alth = oytciir.cmc

atTh aevlse A adn .D Since het MCHC si onmlra (wcihh is tno wtha we wodlu cteexp orf erirtdehya so)hicyossrpte dna the tpas'iten tsymosmp aer ,rseeve ethy ustm ehav a mdleri"" eovinrs of teh disasee ..(ge danoohirlpacsa is slao alooasmtu mndoatin nad is alhlet if oyu egt hte yuoshmzoog )fm.ro

yOivoslbu eoms ibg aselp in egisaornn eher ubt tstha' one thpa to teh irgth sawern

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victor_abdullatif deti 1#: made a .yopt anmet to ays te"h psittae'n tympsoms are OTN s"rveoyrs eer aobut tha!t +

l0ud_minority Yse I od'tn tnrnsudade ywh hte CHCM is nmoral htta si tlsli ont ahwt si edxepect. I hsiw EBMN vorepdid wsnare ysek and tiecd rhtei socrsue orf rheit ael.atonri +

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+1 upvote downvote
submitted by sciguy(1)

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HS si taumaoosl doamn,itn tub xibtiseh emepconitl ate.cerpnen oS eh had no roercd fo reslpano my,fial btu istll ilekyl torzsgeuyhe.

idei)iWa(pk hTe alilcnci etrvyise fo SH rvaesi rfmo ye-tmrepsofm arcrier ot vesere sieyhlmso ecasbeu het sdrdireo ibsexiht petoilcenm eetcrnpena ni sit spixnoeer.s

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ibestalkinyo Tsih is hwta wtehr em of;f I rudfegi whti 2 aedfecnfut r,tnaeps 'its more lkiely eh ahd an atoasuoml ceseveris umt.aiotn +1

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+0 upvote downvote
submitted by ∗strugglebus(189)

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utoA mod aseeisd rae ylsluau yshzoteuorge (ro so tyeh nwat us to us)aems

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xxabi woH od you know is tolmuoaas amnoitd?n +3

scpomp eeaytrHidr cohossrsyitpe +1

fshowon tIns eht mane rraupcucsol niboolmehg nocticnerotan aicrendse in ietspsyrscoho? tasTh hatw tghrhuo me fof. +5

charcot_bouchard ,yes dlwuo be cin in vper N.EMB Btu isht is astihtb ebmn .02 U ahev to tneifydi yeocsestrhp houtitw cretnla lalpro ni BFP +4

charcot_bouchard ys,e doluw eb cin ni pvre ENMB. uBt htis si ttibhas nemb 2.0 U heva to itndiyef etpssochrye ohuwtit arctlne rploal in PFB +

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+0 upvote downvote
submitted by ∗sunnyside(2)

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Cna anyeno ftjiysu hwy yhte idd ont dsrieebc na icednaesr CC?HM AF 1920 says sctroypoishes sha hghi ,CCMH and yhet idd ont vene vaeh ti no hte uperp edn fo ran.mlo

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