isokromosomin

Isokromosomin is a structural abnormality of a chromosome. It occurs when a chromosome breaks into two arms, and then the two identical arms join together to form a chromosome with two short arms or two long arms. This results in a chromosome that is metacentric or submetacentric, meaning the centromere is located in the middle or slightly off-center, and one set of genes is duplicated while the other is deleted. Isokromosomin can arise during cell division, particularly during meiosis or mitosis, due to errors in the centromere's division. The presence of an isokromosomin can lead to genetic imbalances, which are often associated with various developmental disorders and syndromes. For example, isochromosome X is a common cause of Turner syndrome, where an individual has one X chromosome that is an isochromosome, leading to characteristic physical features and potential health issues. Similarly, isochromosomes involving other chromosomes can be found in certain types of cancer. The diagnosis of an isokromosomin is typically made through cytogenetic analysis, such as karyotyping or chromosomal microarray analysis, which allows for the visualization and characterization of the abnormal chromosome structure. The specific clinical manifestations depend on which chromosome is affected and which arms are duplicated and deleted.