Trisome, in medical terminology, refers to an abnormal condition or state where an individual possesses three copies of a specific chromosome, instead of the usual two. This condition primarily occurs due to chromosomal variations during the process of cell division and replication. Trisomy arises when an extra copy of a particular chromosome is present in all the cells of an individual's body.
Trisomy is often indicated by a numeric representation following the word "trisome," which denotes the specific chromosome that is affected. The most well-known example of trisomy is Down syndrome, also referred to as trisomy 21, whereby an additional copy of chromosome 21 is present in every cell. It is important to note that trisomy can involve different chromosomes, such as trisomy 18 (Edwards syndrome) or trisomy 13 (Patau syndrome).
Trisomy can lead to various physical and developmental abnormalities, as the presence of an extra chromosome disrupts the natural balance of genetic material. These abnormalities can include physical features like distinct facial characteristics, congenital heart defects, intellectual disabilities, and potential health complications affecting various organ systems.
Trisomy is typically diagnosed through genetic testing, such as amniocentesis or chorionic villus sampling, which involve analyzing the genetic material from the developing fetus or cells obtained from the placenta. Management and treatment of trisomy depend on the specific condition and associated abnormalities, often requiring a multidisciplinary approach involving medical specialists, educational support, and interventions tailored to address the individual's needs.
