IMGP3202
«Nijmegen syndrome
• Cyiogcnctlc amdYaii altowi dcCccUon of chromoaomal IniUblHly, jNjl1 t%a charactcrbtlc katort nfth* dlNMc, allhough Ihe poor rcoponac orT (ymphocytw to mllogcns can olkn make dłagnosii cUfltcult
• la generał, llie comUluUonal kiryolypci of natlenia wJlh NBS arc normal (46M
or 46AY). lioamr, In a high proportlon of phyUibemsggiutinln (PJlA)-»tłimilatcd lyraphocytc* (11-dOH), spontaneoiu stmctural chromusomnl rcarrungcnuula arc oraerreu, a% woli aa alncr aherratlans auch aa chromaiki and/or chnimusome hrraka and acrnlrlc fragment*.
• Most of theae rearrangonents speciflcally lnvolvo cłiromoaomoa 7 and 14,
willi broakprinta al banda 7pl5,7q3S,14ql I, and I4q32, whlcb aro Idcntlcal lo iboao fbuna In AT*
lajmuniglihylln chain and T-coll receptor gcnca arc localed al thcsc sllcs. fegŁ **** ubcrniUun I. lnv(7Kpl3q35). folio,vcd
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