Kabuki syndrome is not caused by an 8p duplication: a cytogenetic study in 20 patients

Am J Med Genet A. 2005 Jan 30;132A(3):276-7. doi: 10.1002/ajmg.a.30457.


Kabuki syndrome is characterized by a typical facial gestalt in combination with hypotonia and joint laxity, developmental delay, persistent fetal fingertip pads, and structural abnormalities mainly of the palate and the heart. Cytogenetic conditions may present with features of the syndrome. Recently, Milunsky and Huang [2003], reported an 8p duplication at chromosome 8p22-8p23.1 in 6 patients with Kabuki syndrome. We studied 20 individuals with Kabuki syndrome and were not able to confirm this finding. Kabuki syndrome remains a clinical diagnosis in the majority of cases.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Cardiovascular Abnormalities
  • Child
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 8 / genetics*
  • Cleft Palate / pathology
  • Craniofacial Abnormalities / pathology*
  • Developmental Disabilities / pathology*
  • Gene Duplication
  • Growth Disorders / pathology
  • Humans
  • Intellectual Disability / pathology
  • Syndrome