aneuploidisten

Aneuploidy is an abnormal number of chromosomes in a cell. Instead of having the typical two copies of each chromosome, an aneuploid cell will have more or fewer than two. This deviation from the normal diploid state can involve an extra chromosome, known as a trisomy, or the absence of a chromosome, called a monosomy. Aneuploidy can affect autosomes (non-sex chromosomes) or sex chromosomes.

The causes of aneuploidy are often related to errors during cell division, specifically meiosis, the process of creating gametes (sperm and egg cells), or mitosis, the process of general cell replication. These errors, collectively termed nondisjunction, occur when chromosomes fail to separate properly. Factors such as advanced maternal age, exposure to certain environmental agents, and genetic predispositions can increase the risk of nondisjunction.

Aneuploidy has significant implications for health. In humans, it is a major cause of developmental disorders and miscarriages. For example, trisomy 21 leads to Down syndrome, and aneuploidies of sex chromosomes can result in conditions like Turner syndrome or Klinefelter syndrome. In cancer, aneuploidy is a common characteristic of tumor cells, contributing to genomic instability and the progression of the disease. The accurate detection and understanding of aneuploidy are crucial for diagnosis, prognosis, and the development of potential therapeutic strategies.