Kabuki Syndrome is Not Caused by an 8p Duplication: a Cytogenetic Study in 20 Patients

Overview

Journal Am J Med Genet A

Specialty Genetics

Date 2004 Dec 4

PMID 15578614

Citations 4

Authors

John J M Engelen

Wim H Loneus

Gerrie Vaes-Peeters

Constance T R M Schrander-Stumpel

Affiliations

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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.

Citing Articles

The C20orf133 gene is disrupted in a patient with Kabuki syndrome.

Maas N, van de Putte T, Melotte C, Francis A, Schrander-Stumpel C, Sanlaville D BMJ Case Rep. 2011; 2009.

PMID: 21720541 PMC: 3029272. DOI: 10.1136/bcr.06.2009.1994.

Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration.

Cusco I, Del Campo M, Vilardell M, Gonzalez E, Gener B, Galan E BMC Med Genet. 2008; 9:27.

PMID: 18405349 PMC: 2358878. DOI: 10.1186/1471-2350-9-27.

The C20orf133 gene is disrupted in a patient with Kabuki syndrome.

Maas N, van de Putte T, Melotte C, Francis A, Schrander-Stumpel C, Sanlaville D J Med Genet. 2007; 44(9):562-9.

PMID: 17586838 PMC: 2597955. DOI: 10.1136/jmg.2007.049510.

BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome.

Kimberley K, Morris C, Hobart H BMC Med Genet. 2006; 7:46.

PMID: 16709256 PMC: 1513556. DOI: 10.1186/1471-2350-7-46.