title: Kabuki syndrome is not caused by an 8p duplication: a cytogenetic study in 20 patients.
abstract: 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.
authors.affiliation: Department of Clinical Genetics, Academic Hospital Maastricht, Maastricht, The Netherlands.
authors.forename: John J M
authors.initials: JJ
authors.lastname: Engelen
authors.forename: Wim H
authors.initials: WH
authors.lastname: Loneus
authors.forename: Gerrie
authors.initials: G
authors.lastname: Vaes-Peeters
authors.forename: Constance T R M
authors.initials: CT
authors.lastname: Schrander-Stumpel
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D018376:Cardiovascular Abnormalities; D002648:Child; D002869:Chromosome Aberrations; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D002972:Cleft Palate / Q000473:pathology; D019465:Craniofacial Abnormalities / Q000473:pathology*; D002658:Developmental Disabilities / Q000473:pathology*; D020440:Gene Duplication; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology; D013577:Syndrome