Pallister-Killian Syndrome (PKS) or Tetrasomy 12p is not typically hereditary. It is a rare genetic disorder caused by the presence of extra genetic material on the short arm of chromosome 12. This additional genetic material usually occurs randomly during early fetal development and is not passed down from parents. PKS is considered a sporadic condition, meaning it is not inherited from family members.
Pallister-Killian Syndrome (PKS), also known as Tetrasomy 12p, is a rare genetic disorder caused by the presence of extra genetic material on the short arm of chromosome 12. This additional genetic material results from a random error during cell division early in embryonic development. PKS is not inherited in the traditional sense, as it is not passed down from parents to their children.
PKS occurs sporadically and is typically not inherited from either parent. The extra genetic material on chromosome 12 is usually present in some cells of the body but not all, a phenomenon known as mosaicism. This means that individuals with PKS may have a mixture of cells with the normal number of chromosomes and cells with the extra genetic material. The presence of mosaicism can lead to a wide range of symptoms and varying degrees of severity among affected individuals.
Although PKS is not hereditary, it is important to note that individuals with PKS can have children who are at risk of having the syndrome. This is because the extra genetic material on chromosome 12 can be present in the reproductive cells (eggs or sperm) of an affected individual. If an egg or sperm with the extra genetic material is involved in conception, the resulting child may have PKS. However, the chances of this happening are extremely low, as PKS is a rare condition.
In conclusion, Pallister-Killian Syndrome/Tetrasomy 12p is not hereditary in the traditional sense, but affected individuals can have a small risk of passing the syndrome to their children due to the presence of the extra genetic material in their reproductive cells. Genetic counseling and testing can provide more specific information and guidance for individuals and families affected by PKS.