 Kabuki syndrome is one of the most widely studied syndromes that involve the pseudodicentric chromosome.Other characterized syndromes have also been linked to pseudodicentric chromosomes, such as Edwards syndrome, a trisomy of chromosome 18, and Turner syndrome, a loss (or partial loss) of the X chromosome.Pseudodicentric chromosomes alone do not define these syndromes, because the contribution of other chromosomal abnormalities are also considered, such as the presence of isochromosomes in Turner patients.