Keywords
Abstract
Holoprozensefaliya (HPE) embrion rivojlanishining erta bosqichida miyaning oldingi qismi to‘liq ajralmasligi natijasida yuzaga keladigan murakkab markaziy asab tizimi malformatsiyasidir. Patau sindromi — 13-xromosoma trisomiyasi — HPEning eng keng tarqalgan xromosomal asosli sababi bo‘lib, alobar shakli eng og‘ir klinik ko‘rinishlardan biridir. Ushbu maqolada Patau sindromining kelib chiqish mexanizmlari, HPE bilan genetik va embriologik bog‘liqligi, klinik namoyonlari, prenatal tashxis usullari hamda morfologik o‘zgarishlarning tizimli tahlili yoritiladi. Shuningdek, o‘ta og‘ir holatlarda uchraydigan yo‘ldosh sindromlar, yurak, yuz-jag‘ va neyroanatomik nuqsonlar ham batafsil ko‘rib chiqiladi.
Maqola trisomiya 13 bilan bog‘liq HPEning keng spektrdagi klinik ifodalanishini o‘rganib, genetik maslahat va perinatal muolaja muammolarini muhokama qiladi.
References
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