PATAU SINDROMI (TRISOMIYA 13)

Patau sindromi — 13-xromosomaning to'liq yoki qisman uchinchi nusxasi tufayli yuzaga keladigan jiddiy xromosomal holat bo'lib, ko'plab organ tizimlarida teran morfogenetik va funksional anomaliyalarni keltirib chiqaradi. Ushbu maqolada kasallikning epidemiologiyasi, molekulyar va sitogenetik etiologiyasi, kompleks patogenezi, klinik spektri, prenatal va postnatal diagnostika usullari, boshqaruv va davolash printsiplari, profilaktika choralari va genetik maslahatlar batafsil tahlil qilinadi. Maqola, shuningdek, Patau sindromining reproduktiv oqibatlari va etik muammolar kuni-kecha klinik amaliyotda duch kelinadigan qarorlar kontekstida muhokama qilinadi.

Authors

Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2026-09-16
DOI
https://doi.org/10.5281/zenodo.22784175
Primary Topic
Skin and Cellular Biology Research
Type
article
Field-Weighted Citation Impact
0.00
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PATAU SINDROMI (TRISOMIYA 13)

Jonibek Musulmonivich Xudoyqulov
Zenodo (CERN European Organization for Nuclear Research)
Skin and Cellular Biology Research
article

PATAU SINDROMI (TRISOMIYA 13)

Jonibek Musulmonivich Xudoyqulov
article en

Abstract

Patau sindromi — 13-xromosomaning to'liq yoki qisman uchinchi nusxasi tufayli yuzaga keladigan jiddiy xromosomal holat bo'lib, ko'plab organ tizimlarida teran morfogenetik va funksional anomaliyalarni keltirib chiqaradi. Ushbu maqolada kasallikning epidemiologiyasi, molekulyar va sitogenetik etiologiyasi, kompleks patogenezi, klinik spektri, prenatal va postnatal diagnostika usullari, boshqaruv va davolash printsiplari, profilaktika choralari va genetik maslahatlar batafsil tahlil qilinadi. Maqola, shuningdek, Patau sindromining reproduktiv oqibatlari va etik muammolar kuni-kecha klinik amaliyotda duch kelinadigan qarorlar kontekstida muhokama qilinadi.

Zenodo (CERN European Organization for Nuclear Research)
Good health and well-being
Openalex Percentile: Top 14%
Skin and Cellular Biology Research
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