Which are the causes of Trisomy 13 Syndrome / Patau Syndrome?

Causes of Trisomy 13 Syndrome / Patau Syndrome

Trisomy 13 Syndrome, also known as Patau Syndrome, is a genetic disorder caused by the presence of an extra copy of chromosome 13 in the cells of an individual. This condition occurs randomly and is not typically inherited from parents.

1. Chromosomal Abnormality: Trisomy 13 Syndrome is primarily caused by a chromosomal abnormality known as trisomy, where there are three copies of chromosome 13 instead of the usual two. This additional genetic material disrupts the normal development and functioning of the body.

2. Non-Disjunction: The most common cause of trisomy is a random error in cell division called non-disjunction. Non-disjunction occurs during the formation of reproductive cells (eggs or sperm) in one of the parents. When the egg or sperm with an extra copy of chromosome 13 combines with a normal egg or sperm during fertilization, the resulting embryo will have three copies of chromosome 13 in each cell.

3. Mosaic Trisomy 13: In some cases, Trisomy 13 Syndrome may occur as a result of a phenomenon called mosaic trisomy. Mosaic trisomy 13 happens when the extra copy of chromosome 13 is present in only some cells of the body, while other cells have the usual two copies. The severity of symptoms can vary depending on the proportion of cells affected.

4. Advanced Maternal Age: Although Trisomy 13 Syndrome can occur in pregnancies of women of any age, there is a slightly higher risk for older mothers. The likelihood of non-disjunction events increases with maternal age, which may contribute to the higher incidence of trisomy disorders in older women.

5. Environmental Factors: While the exact environmental factors that may contribute to Trisomy 13 Syndrome are not well understood, some studies suggest that exposure to certain chemicals or radiation during pregnancy may increase the risk. However, more research is needed to establish a definitive link between environmental factors and the development of this condition.

It is important to note that Trisomy 13 Syndrome is a rare genetic disorder, occurring in approximately 1 in 10,000 to 1 in 16,000 live births. The condition is associated with multiple physical and intellectual disabilities, and affected individuals often require specialized medical care and support throughout their lives.