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

TitleKabuki syndrome is not caused by an 8p duplication: a cytogenetic study in 20 patients.
Publication TypeJournal Article
Year of Publication2005
AuthorsEngelen JJM, Loneus WH, Vaes-Peeters G, Schrander-Stumpel CTRM
JournalAmerican journal of medical genetics. Part A
Volume132A
Issue3
Pagination276-7
Date Published2005 Jan 30
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 chromosomei 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.

Alternate JournalAm. J. Med. Genet. A
Citation Key15578614