marfan sindromi
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variant №8. 1.st. tushuncha bering. marfan sindromi- autosoma dominat tipda irsiylanadigan biriktiruvchi to’qima kasalligi 2.st. taqqoslang – fruktozemiya. fruktozauriya, qonda fruktoza miqdori ortadi 3.st. kariotip tuzing– daun, patau, klaynfelter. daun 47 ta xromasoma (21-juft xromasoma trisomiyasi), patau 47ta xromasoma (13-juft xromasoma trisomiyasi), klaynfelter 45 ta xromasoma (xo) bitta x jinsiy xromasoma yo’q. 4. st. shajara tuzing - fku 5.st. test eching 1) marfan sindromi differentsial diagnozi a) gomotsisteinuriya b) tug'ma yurak nuksonlari v) veyl-markezanisindromi g) tug'ma kukrak qafas deformatsiyasi d) tsistinoz 2.qaysi kasalliklar aminokislota almashinuvi bilan bog'liq 1. alkaptonuriya 2. girke kasalligi 3. tirozinoz 4. fku 5. marfan sindromi. 6.st. test eching 1.tsistinozd...
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