kromosoomimutatsioon
kromosoomimutatsioon refers to alterations in the structure or number of chromosomes within a cell. These genetic changes can arise during DNA replication or cell division and may be inherited (germline) or acquired (somatic). The main categories of chromosomal mutations include deletions, duplications, inversions, translocations, insertions, and aneuploidies. Each type differs in how it disrupts genomic integrity; for example, a deletion removes a segment of genetic material, whereas a translocation exchanges segments between non‑homologous chromosomes.
The etiology of kromosoomimutatsioon is diverse. Errors in meiotic recombination, exposure to ionising radiation, certain chemicals,
Consequences of chromosomal mutations vary from benign to pathogenic. Aneuploidies such as trisomy 21, which causes
Detection methods include karyotyping, fluorescence in situ hybridisation (FISH), comparative genomic hybridisation (CGH), and next‑generation sequencing