XROMOSOMA (DAUN, EDVARS, PATAU SINDROMLARI) KASALLIKLARI
Keywords:
xromosoma, gen, irsiyat, anomaliya, sindrom, genetika, kasallik.Abstract
Xromosoma kasalliklari – bu inson organizmidagi xromosomalar soni yoki tuzilishidagi o‘zgarishlar natijasida kelib chiqadigan irsiy kasalliklar guruhidir. Tadqiqotda xromosoma anomaliyalari turlari, ularning paydo bo‘lish sabablari, tashxislash usullari hamda klinik belgilari haqida ma’lumotlar keltirilgan. Shuningdek, Daun sindromi, Terner sindromi, Klaynfelter sindromi kabi keng tarqalgan xromosoma kasalliklari misolida ularning genetik asoslari va tashqi ko‘rinishdagi o‘zgarishlar tahlil qilingan. Ishda xromosoma kasalliklarini erta aniqlashda genetik diagnostika va prenatal tekshiruvlarning ahamiyati alohida ta’kidlanadi.
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References
Арипова, Г. Т., & Рахимова, М. Х. (2021). Tibbiy genetika. – Toshkent: Tibbiyot nashriyoti.
G‘ulomova, S. S. (2019). Irsiyat va o‘zgaruvchanlik asoslari. – Toshkent: Fan va texnologiya.
Thompson, M. W., & McInnes, R. R. (2020). Genetics in Medicine. 8th Edition. – Elsevier, Philadelphia.
Emery, A. E. H. (2018). Introduction to Medical Genetics. – Oxford University Press.
Pujol, A., & Kalousek, D. K. (2017). Chromosomal Disorders and Their Clinical Manifestations. – Cambridge University Press.
World Health Organization (WHO). (2023). Congenital and Chromosomal Disorders – Fact Sheet. – www.who.int.
National Human Genome Research Institute (NHGRI). (2022). Chromosome Abnormalities Overview. – www.genome.gov.
Online Medical Library: MedlinePlus – Chromosomal Conditions. (2024). – https://medlineplus.gov.