Is Pallister-Killian Syndrome / Tetrasomy 12p contagious?

Pallister-Killian Syndrome (PKS) / Tetrasomy 12p is a rare genetic disorder caused by the presence of extra genetic material on the short arm of chromosome 12. It is not contagious and cannot be transmitted from one person to another.

PKS is a sporadic condition, meaning it occurs randomly and is not inherited from parents. It is typically caused by a random error during the formation of reproductive cells or early embryonic development. The extra genetic material on chromosome 12 disrupts normal development and can lead to a wide range of physical and intellectual disabilities.

Individuals with PKS may exhibit distinctive facial features, developmental delays, intellectual disabilities, seizures, and other health issues. The severity and specific symptoms can vary widely among affected individuals.

PKS is diagnosed through genetic testing, which can identify the presence of extra genetic material on chromosome 12. There is currently no cure for PKS, but treatment focuses on managing symptoms and providing supportive care to improve quality of life.

It is important to note that PKS is not contagious, and individuals with PKS can lead fulfilling lives with appropriate support and care. If you suspect someone may have PKS or have concerns about the condition, it is recommended to consult with a healthcare professional or genetic counselor for further evaluation and guidance.