DAUN SINDROMINING GENETIK SABABLARI. TRISOMIYA 21, ROBERTSON TRANSLOKATSIYASI VA MOZAIK FORMA.
Keywords:
Daun sindromi, trisomiya 21, Robertson translokatsiyasi, mozaik forma, genetik sabablar, xromosoma anomaliyalari, irsiyat, klinik belgilari, tashxis, genetika.Abstract
Daun sindromi - inson genetik kasalliklari ichida eng ko‘p
uchraydigan va yaxshi o‘rganilgan sindromlardan biridir. Uning kelib chiqishida
asosiy sabab xromosoma 21 ning ortiqcha nusxasi hisoblanadi. Ko‘pchilik holatlarda
(taxminan 95%) trisomiya 21 kuzatiladi, ya’ni organizm hujayralarida 21
xromosomaning uch nusxasi mavjud bo‘ladi. Qolgan hollarda esa Robertson
translokatsiyasi va mozaik forma kuzatiladi.
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