Aneuploidoja

Aneuploidoja is a genetic condition characterized by an abnormal number of chromosomes within a cell, resulting from errors during cell division, specifically in meiosis or mitosis. The term derives from "aneuploidy," referring to deviations from the normal chromosome number, which in humans is typically 46 (23 pairs). Aneuploidoja can lead to various developmental and health issues depending on the chromosomes affected and the extent of the abnormality.

This condition often occurs due to nondisjunction, a failure of chromosomes to separate properly during cell division, resulting in cells with either extra or missing chromosomes. Examples include trisomy, where there is an extra chromosome (such as trisomy 21, associated with Down syndrome), and monosomy, where a chromosome is missing (such as Turner syndrome, where females have only one X chromosome).

Aneuploidoja is associated with a range of phenotypic outcomes, from mild to severe, impacting physical development, cognitive function, and overall health. The likelihood of aneuploidy increases with maternal age and is more frequently observed in pregnancies of older women.

Diagnosis is commonly achieved through cytogenetic tests, such as karyotyping, fluorescence in situ hybridization (FISH), or more advanced genomic sequencing techniques. These methods allow for the detection of abnormal chromosome numbers or structures.

Prevention strategies are limited, but genetic counseling can help prospective parents understand their risks. Management of conditions caused by aneuploidoja involves a multidisciplinary approach tailored to the specific health needs of affected individuals. Research continues to explore the underlying mechanisms and potential therapies to mitigate the impacts of this chromosomal abnormality.