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

Kabuki syndrome is charcterized 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. Recentl...

Full description

Saved in:
Bibliographic Details
Published in:American journal of medical genetics. Part A 2005-01, Vol.132A (3), p.276-277
Main Authors: Engelen, John J.M., Loneus, Wim H., Vaes-Peeters, Gerrie, Schrander-Stumpel, Constance T.R.M.
Format: Article
Language:English
Subjects:
8p duplication
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Cardiovascular Abnormalities
Child
Chromosome Aberrations
Chromosomes, Human, Pair 8 - genetics
Cleft Palate - pathology
clinical diagnosis
Craniofacial Abnormalities - pathology
cytogenetic study
Developmental Disabilities - pathology
Gene Duplication
Growth Disorders - pathology
Humans
Intellectual Disability - pathology
Kabuki syndrome
Syndrome
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Kabuki syndrome is charcterized 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. © 2004 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.30457