Dicentric chromosomes may lead to pseudodicentric mutations, in which one of the centromeres on the chromosome becomes inactivated. This can have severe clinical consequences for patients, as observed in severe progressive neurological and intellectual disorders such as Kabuki syndrome, a pediatric congenital disorder. 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.
