NBME 24 The patient has another mutation that was not included in the previous analysis (NBME Answers)

Retired NBME 24 Answers

nbme24/Block 2/Question#42 (reveal difficulty score)
A 3-week-old female newborn is brought to the ...
The patient has another mutation that was not included in the previous analysis 🔍 / 📺 / 🌳 / 📖
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+12 upvote downvote
submitted by ∗colonelred_(124)

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Teh sayasiln nlyo owdhes a tunmiota in eon ll.eela FC is an saaomluot evreisecs i:sesaed hte sadseie noyl tsasnefim fi heter era mitotsuna in othb elaelsl of eth FTCR n.gee

If ouy ltisl haev 1 utloaifncn cypo fo hte CRTF ene,g ouy anc llsti kaem the RFTC toneipr t(he clhoedri l)rrnne,hcropt/aesnta ecnhe oryu yodb ’wotn veha yna .esusis

siTh is lsnogoaau ot umtro uospressrp genes kile bR: so lgon sa neo fo hte sleaell oyu heva is icu,fltnano ouy anc ekma eoghun fo teh nperito to “maek u”p for eht idefteevc le.alel fI tbho egt knedokc uot -Rb-(/), uyo selo teh ttneopiocr vprodedi by teh gene bacuese wno ouy kaem no irotenp ta lal.

The loyn tginh ttha aedm eesns for siht notiques saw eht fcta ttha het reoth lelela swa ton luddncei ni het sia.sylan

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charcot_bouchard RO rohetna eelall ahs a ffid ytpe fo ntiuamot bsuecae FC si ndoe by leik ddhunsre fo ifdf ptye of ttnumao.i OS het 07 ypest that ew eercneds cdvoeer eon eytp mfro one aeptnr tbu nto tehaonr atht aws inthredei mfro oehrt .eptrna +46

soph I upt D khngitin three aws a uatimotn in nretoah orntiep ahtt rsntciaet hitw FCst.uR.h..T u dton evha FC btu osme esseaid itwh rmilias ntppeyho.e sI itsh rnogw cb sti liymsp ont eht caes ?? +14

nbmehelp @thar_houdcboccar I htnik ttah ekasm omre ssnee if I nddsturnae hatw oy'ure -ngasiy orPalbby ahd a ntmuiato nlyo in 1 of 2 of hte smae lalslee ni eth alaiysns utb dha orethna tatiounm ni 2 fo 2 elalles at a fretdfine oniaoclt not ndelicdu ni eth il,asysan rh?igt +

fallot4logy CF si a arer eesiads , nda het bsplisoytii to ahev a taumdet gnee plus a enge ahtt sit nto gelnbo ot 07 msot cmmono cf umittsano si lmexrtyee arre +5

gubernaculum ho@ps i kidcep D oot ubt wno olkgion k,acb het anlpe hda 07 fo the somt oonmcm TFCR egne nsuaimtto os it si lelkuyin ttha htey n'tidd ayadlre ekcch a geen tath decso fro a oipnret thta taectrnis hwit RCFT? 'ahtst eht onyl ywa i cna ietiazrnlao i.t its dba wtiingr lmeulyiatt +

peridot I slao idkpec ,D utb ehetr are revo 0017 efntidref msttnaoui orf CF dan i'st too hdar ot stet orf ehtm all - hte anlpe in hte isntoqeu setdte orf hte 70 mots ommnco. sA oserth itodne,men FC is na ltuooamas vieeesrsc aised,se so heter usmt eb rtenoah ttueadm aellle rehe fro eth cldhi ot pensret hwit het isea.sde 'stI oerm l,elyik nda I niaemig tno m,onncoum htat eht aittmuon is ont in eht lep.an sA rof D, I osppuse het sbte aeirsnngo I anc ecom pu rfo ti si atht gnontih ikle atht estsix - what onrtiep rnatctsie itwh ENO ttdaeum CRFT llaeel in atth it erutssl ni the esam hopyenetp as CF, a ordsderi atth eqriuser OTW datuemt alels?el I ehav neerv raedh fo ucsh a gtin,h erwesah I ahve ydileftnie ehadr fo A ibneg eth e.sac +2

weirdmed51 troepd@i B,‘ ’ bnegi teh ueacs uyo nema +

+8 upvote downvote
submitted by ∗eli_medina9(22)

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LIACELL GEEETEYOTHRNI (FA page 57 1)209

erhTes upeltiml aeelll aatirnvs rfo the CRTF enge ni a gsleni uclso, os uyo uodcl get iyctsc bfrssoii romf a omnittau ni yan eno of ehost lelael tves(erahsairnt rveo 5100 firdfetne otnuasmti )ecdbersid eth uoeinstq smet metdinoen hyet tdtese rof hte mtos ncmoom sety,p os we cna amsseu teyh rbboalyp juts ssedmi nistgte ofr iotnasumt in ethor .llaeesl

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peqmd MiFw/ftstihc/cFCfeon/etu.-isTo/:s/ptseRoTagwWs/.--frCaty--wnGpth +

melanoma ni toehr aeel,lsl? we nloy hvea wot asellle rpe ngee +

qiss em@lnmoaa thr"eo slll"aee as in eth emas alelle thiw a iedeffrnt tyep fo nmttiua.o kLei 9eidiman_le ednti,moen CF pyilms acn be usaecd yb staonhdus fo rftinefde tsntmuiao fo hte FCTR .egen ishT yabb rilg ahs otw leesla,l neo fo thme hwit a notamtui fudno in het snsliaay dna eht teorh alleel htiw a itontmua ttah swat'n tdeeectd snmogta the most momnoc ia.ntusmot +

+1 upvote downvote
submitted by ∗bharatpillai(40)

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ITR si ameurdse in tonerui lreheick-p oodbl ntake for ilhacobmice niersgcne of lal bowrnne stinnfa norb in teh .KU ihsT tste is one fo a emrbun of dmotpelec ni noerbnw ncegriens eht( r"tuGhie .tT)es" In talriuAsa it is nnowk 9%4 of eshot itwh atnuvlee issnagoid fo FC hvea a tevsoiip TRI on bonrnew escnre. amplsSe iwth a idresa RIT efdi(edn sa hhsegit %1 fo se)lauv are nhet nedercse rof mncoom CF gnee tmua.tisno cahE tenrec ahs a lsitlhgy dfentreif ngee nalpe; cuneryltr 5-040 fo hte otsm moconm nsgee rea nceuesdeq. wr,oveHe tereh rae reom hnta 2000 onwnk tismto,nau so egen plnea ttniegs esod msis ailonoaccs FC stetinpa

fI eneg tsgtnei fidns oen ontuatmi yeht liwl enht vhea a teaws stet to ehpl mnrifco the gsadsioni. eaSwt eintsgt si eomr kleyli to eb alocqueiv ni niftsan dan tcliayypl ont eedtatpmt in htoes derun g5.k If seatw ttes is ieotpsvi meor esainpexv gene ittesgn si .drdcenieos If tow taumsitno rae dfonu hyet rae iegnoddas with C.F

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bharatpillai i awser ot odg emso shasat who wtore iths qneotusi atdleyiimme efldolwo it pu by akginm a kaiiidewp tsop taubo ti to rpendet ilek hist is eoms ommcon knlogwdee daeclim tnustdes rewe speoupsd ot he.av +1

utap2001 Ge!rat Areft deignar yuro ealnap,inotx I teunyleavl dtunaednrs het miegnan fo tihs int.euosq +

+1 upvote downvote
submitted by ∗unknown001(9)

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SE.LIMP 3 .ptsse

we nkow hits irgl hsa sticcy sifboisr .
utb insgtte whsos olyn 1 eelall is .utmtead
cisen she sha C,F eth trheo laeell NNTOAC eb mlonra , adn het lnoy axnenoapitl ot erh iavhgn CF is eht enlpa ddnit cdetet t.i

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+0 upvote downvote
submitted by ∗sweetmed(157)

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uyo need a tumatnio ni 2 ealelsl ot teg FC eci[sn it is ooltamaus ee]srsievc/

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+0 upvote downvote
submitted by ∗an_improved_me(91)

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oerthnA tgh.n.i. 'Itns ti lsepbosi htat hotb eth awtse orlidche test adn teh niicummveearot tnsrpyi ear stuj aslfe ?+ tBoh of seeht ssett ehav yretpt lwo delhohtsr for rerngnitu sa a + orsesnp.e Wyh atcn' ti be isspleob atth oen aclliel atmitnuo is eoughn ot usace a soievitp utelsr ni teshe ,tstse iotwhtu ltcalyua isginfynig eht tp sah a aees?ids My yonl sguse si ahtt escni two wsnersa tcaidnei ttah three ouldc eb a sealf pvoetsii, itnheer cna eb het tghri .aersnw

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