An Essay on the genetic disease Cat Eye Syndrome

CAT EYE SYNDROME Cat Eye Syndrome (CES) is a rare x-linked mutating disease that occurs on chromosome 22. Cat Eye Syndrome is also referred to as Partial Trisomy, Partial Tetrasomy, or Inverted Duplication. Individuals with a normal chromosomal karyotype have a pair of 22nd chromosomes, both of which have a short arm, known as 22p, and a long arm, called 22q. However, in individuals with cat eye syndrome, the short arm and a small region of …

…caused and what can be done to move towards a cure. Based on affected individuals observed in Northeastern Switzerland in the last two decades, investigators estimate approximately one in 50,000 to one in 150,000 individuals are affected with cat eye syndrome. Because some affected individuals develop few associated features, however, the disorder often remains unrecognized and may therefore be under diagnosed, making it difficult to determine the true frequency of cat eye syndrome in the general population.