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Kabuki syndrome is not caused by an 8p duplication: A cytogenetic study in 20 patients
Article first published online: 2 DEC 2004
DOI: 10.1002/ajmg.a.30457
Copyright © 2004 Wiley-Liss, Inc.
Issue
1552-4833/asset/cover.gif?v=1&s=9818ec8c89d0772bf0e752b15694c460afb83f9f "American Journal of Medical Genetics Part A")
American Journal of Medical Genetics Part A
Volume 132A, Issue 3, pages 276–277, 30 January 2005
Additional Information
How to Cite
Engelen, J. J., Loneus, W. H., Vaes-Peeters, G. and Schrander-Stumpel, C. T. (2005), Kabuki syndrome is not caused by an 8p duplication: A cytogenetic study in 20 patients. American Journal of Medical Genetics Part A, 132A: 276–277. doi: 10.1002/ajmg.a.30457
Publication History
- Issue published online: 22 DEC 2004
- Article first published online: 2 DEC 2004
- Manuscript Accepted: 13 OCT 2004
- Manuscript Received: 10 OCT 2004
- Abstract
- Article
- References
- Cited By
Keywords:
- Kabuki syndrome;
- cytogenetic study;
- 8p duplication;
- clinical diagnosis
Abstract
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.