Lisakromosoomi

Lisakromosoomi refers to an extra chromosome in an individual's cells. This condition, also known as trisomy, occurs when a person has three copies of a particular chromosome instead of the usual two. Most often, this arises due to a random event during cell division called nondisjunction, where chromosomes fail to separate properly. This can happen during the formation of egg or sperm cells.

The consequences of a lisakromosoomi depend entirely on which chromosome is affected and the extent of the extra genetic material. Some trisomies are incompatible with life and result in miscarriage. Others lead to specific genetic disorders with characteristic physical and developmental features. The most well-known example is Trisomy 21, which causes Down syndrome. Other trisomies, such as Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome), are also associated with significant health issues and developmental delays.

Diagnosing a lisakromosoomi can be done through various prenatal screening and diagnostic tests. These include blood tests, ultrasound, and more definitive methods like amniocentesis or chorionic villus sampling. While there is no cure for trisomy, management focuses on addressing the specific health concerns and developmental needs of the individual. Support services and therapies can help individuals with a lisakromosoomi to reach their full potential. The presence of an extra chromosome is a permanent genetic alteration.