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 the long arm of chromosome 22 are present three or four times rather than twice in cells of the body.
Cat eye syndrome was specifically defined in 19…
