HYDEREGATICAL DISEASES RESULTING FROM DISORDERS OF CHROMOSOME STRUCTURE IN HUMANS AND THEIR EARLY DIAGNOSIS
Keywords:
chromosome structure, chromosomal disorders, hereditary diseases, genetic mutation, deletion, duplication, inversion, translocation, karyotyping, prenatal diagnosis, molecular genetics, genetic screening, hereditary syndromes, early diagnosis, DNA analysis.Abstract
This article analyzes the causes, genetic mechanisms, and impact of hereditary diseases in humans resulting from structural changes in chromosomes. The clinical signs of hereditary syndromes and diseases that develop as a result of structural changes in chromosomes, such as deletions, duplications, inversions, and translocations, are highlighted. The importance of prenatal and postnatal diagnostic methods, including cytogenetic, molecular genetic analysis, karyotyping, FISH, and DNA diagnostics, in the early detection of these diseases is also considered. The possibilities of preventing diseases, increasing the effectiveness of treatment, and improving the quality of life of patients through early diagnosis are scientifically substantiated.
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Jahon sog‘liqni saqlash tashkiloti ma’lumotlari, 2023.
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