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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 ๐Ÿ” / ๐Ÿ“บ / ๐ŸŒณ / ๐Ÿ“–
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 +12  upvote downvote
submitted by โˆ—colonelred_(124)
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eTh ssailnya noyl wshoed a mttinoua ni eon allel.e FC is an lsotuomaa servcesei iae:ssed the dsaeeis lnoy etfnsasmi if heter era tsmitoaun ni hbto eesllla of hte FRTC e.gne

fI ouy tllis have 1 onuaifnctl ocyp of the FRCT neg,e uoy cna lsitl amke hte CTRF nrtepoi he(t dhroeilc rlnnater),asnteo/prch neech yuro bdoy ntwoโ€™ aevh yna .useiss

Tish si agonusaol ot oturm rsppsouser sgeen eikl bR: os nglo as noe of het laelels ouy have si ntfiulc,ona you acn amke eoghun of eht ioreptn ot mkaeโ€œ upโ€ orf the ceteeifvd elle.al If hbto egt ncokdek otu -(b/R-), yuo osel eht npeotticro vopedrdi by teh ngee abseuce onw oyu ekam no piotenr ta la.l

Teh olyn hngti thta amde snees fro siht nsotequi aws teh cfta ttah the ohrte allele asw ont cdiuledn in eth lais.nays

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charcot_bouchard  OR reoahtn allele ash a diff ptye fo mtiantou baeecsu CF is edno yb ekil uddnsrhe of idff etpy fo tanmtoi.u SO the 07 epsyt ahtt we rcseende rdveoec eno pyet ofrm one nraept tub ont onaerth that aws idtenheri mfro hrteo ertna.p +46
soph  I upt D tkgnhiin tehre swa a mutatnio in eortnha eptiron taht icasttren hiwt RsF..Tht.u.C u tnod ehav CF tbu osem iesaesd ihwt ramiisl eepontyhp. sI iths wognr bc sti ilmyps nto hte acse ?? +14
nbmehelp  actobahohdcrrc_@u I hiktn ahtt msaek omre snees if I dnusatnred htwa u'ryeo yn-igas obabylPr dha a toimtnau lony ni 1 of 2 of the eams leaesll ni het aassliyn ubt dha eartnoh imutaotn ni 2 fo 2 elllsae at a nffertedi oiocntla nto dilneucd ni het nsiasyla, gh?rit +
fallot4logy  FC si a earr iasesde , dna het tolispibisy to eavh a dtmeuta enge pslu a gnee htta ist not olgenb ot 70 smot omnmoc cf mnauotsti is xelteemyr rare +5
gubernaculum  ph@so i pdeick D too ubt now lngkioo ,cbak hte lpena adh 07 fo eht tmos onommc FTRC gnee itsomntua so ti si ylluiekn taht tyhe dnitd' aylaerd cekhc a neeg htta dsceo rof a onrtiep thta ctritanse thiw CFT?R s'ttha het lnyo wya i acn lrziianoeat t.i ist bda igriwnt iylmtutlae +
peridot  I osla pkceid ,D utb hteer rea voer 1007 nffeiredt oitmunsat rfo CF dan 'its oto rahd ot tset ofr etmh lal - het aenlp in teh quiseont settde orf the 70 tmos cmonmo. As retosh menniedt,o FC is an utaaslomo evscesier ei,asdse os heert sumt eb ahorent udetmat eelall eehr orf eht cidhl ot tsnerpe htiw the ssea.edi sI't oemr ilkey,l dan I gniaiem ton ,mnmoucno htta teh muttiaon is otn in hte pe.lan As orf ,D I puesops eth ebts ornnsagie I can ecom up rof ti is ttha hognnit kiel ttha siestx - thwa opnreti etscartin twih ENO duttame FTCR leeall in ttha ti rsutlse in hte mase eepohpytn sa CF, a derdiors ttha eruierqs TWO dueattm llsee?la I heva envre aderh fo csuh a g,htni wshreea I vhae yidnelfeti haedr fo A gbnie het sc.ae +2
weirdmed51  oeipdt@r โ€™B ,โ€˜ igben the ucase you enam +



 +8  upvote downvote
submitted by โˆ—eli_medina9(22)
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CLAILLE EENIGOTHEEYTR A(F agpe 57 290)1

hrseTe emlpliut leella invrtsaa rof teh CRFT geen ni a eingsl su,col os yuo udocl egt ctcyis sriibofs romf a ttaiunmo ni nya noe of tseoh ellela hesnseat(virart rove 0015 dineffret timatuosn brdcids)ee hte eunostiq semt tomnednie etyh dsteet rof hte mtos onocmm sepy,t so ew acn eumsas ethy abrybopl utsj smdesi gtinste rof satumnito in eroth eesl.all

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melanoma  in oethr elll?s,ae ew noly vhea wto lelaels rep egen +
qiss  lamnme@oa hto"er al"sllee sa ni het mase elella thwi a nftdeierf tpey of inaom.ttu ikLe il9am_iened mn,tieonde FC milpys anc be sucdae by sdutnsaoh of edrffenti sinuaomtt fo hte CTRF e.nge hTis bbya iglr sha wot el,lelsa oen fo temh iwth a ioutntam ondfu ni hte sianysla nda het hetor aleell thiw a itmnouta htta tsawn' tdetceed gtmsano het ostm nomomc u.aniomtts +



 +1  upvote downvote
submitted by โˆ—bharatpillai(40)
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RIT is urdseema ni otuneir -ieelcpkrh oldob kneat ofr ahcieocmbli rinensegc fo all bonnerw natfsin bonr ni hte .UK sTih etts si eno of a mubner of mtdlpcoee in reonwnb esirnnceg the( ehriu"tG ")ets.T nI rilAsatua ti si wnnko %94 of hsteo hwti letnueva dsinasgio of CF ehav a ivteiops ITR no nbnroew ne.scer lapsmeS whit a ardies IRT fnedie(d sa tgieshh 1% of sule)va rae nhte sendeecr rfo cnommo CF gene aounistmt. cEha trcene hsa a yhsitgll eifdtnfre egen p;lena ytlurcren 054-0 fo het toms mcomno senge rea sdcneq.eeu wovHer,e eehtr era eorm ntha 0002 konwn onsaum,tti so gene nelap sntgtei edos msis accioaolsn FC sitapent

fI neeg gsitten nifds noe aunoitmt they iwll ehnt vahe a eawst ttse ot phel nocfmri hte sosgni.adi aweSt gttnsei is oemr eikyll to eb vaocequli ni sfnatni dan tillyapcy ton mattepted ni seoht eudrn .5kg If waset ttse si ipesvito mreo vesxnaiep eneg isntgte is iecrd.sedon If otw ttainmosu are unfdo hyet rea ideodnasg iwht C.F

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bharatpillai  i eawrs ot dog mseo aathss woh rtowe isth sotiqeun myiaeiltmed dlweolof ti up yb ignmak a ikapidwie pots ouatb it to peednrt kiel this si smoe moconm oelgnekwd eldaicm dstuetsn erew sppoueds to .hvae +1
utap2001  trG!ae tfAre geidarn uyro pn,aeitnoxla I ueetvylaln atnnesrddu the iengmna of this q.euinsto +



 +1  upvote downvote
submitted by โˆ—unknown001(9)
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SM.PEIL 3 s.stpe

  1. ew onkw hsit lgri has cyitsc siisfrob .

  2. utb eigttns ssowh ynlo 1 laelel si ta.tdmue

  3. isenc she hsa FC, eht hotre eelall OANCNT be alnmor , nda hte nyol epanxntailo ot ehr vianhg CF si eth eplan tdndi deectt .ti

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 +0  upvote downvote
submitted by โˆ—sweetmed(157)
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uyo deen a minatout ni 2 leslael to gte FC sc[nei it si lmoutsaao r/seiec]sve

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 +0  upvote downvote
submitted by โˆ—an_improved_me(91)
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rtAheno .tigh.n. t'nIs ti bopsiles atth hobt eht twsae ecrholid etst nda teh utammicvnieero tinyspr ear tsuj eslfa ?+ hBot of heset sstet ehva ttyerp low htdeoshrl orf rgrintuen as a + .speorens hWy c'ant it eb isspelbo hatt oen elilalc umtinoat si ugonhe ot cesau a seiovpti etulrs in steeh t,etss outhtwi tllcuaya gyifsnnigi eht pt ahs a ?sdieesa My ynol sugse is atht nesci tow sasnerw necadtii atth etrhe ouldc eb a laesf tspiei,vo theirne acn be eht gtrhi er.aswn

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