Close Menu

Books in a Library

49, XXXXY: The Role of the MSX1 Gene



49, XXXXY syndrome is the most severe and rare form of Klinefelter syndrome. The number of cases of oral and dental findings with this syndrome is very little. The aims of our case report are to present oral and dental findings of the syndrome about which we have limited knowledge, to support other case reports, and to evaluate the relationship between this syndrome in which hypodontia is seen and the MSX1gene that is associated with hypodontia. The clinical and radiographical examination of a 11-year-old patient who was taken to the practitioner for his retarded development at the age of 1 and diagnosed with 49, XXXXY syndrome by chromosome analysis and had characteristics of this syndrome, were done. Congenital missing of permanent teeth, hypertaurodont primary and permanent teeth, delayed tooth development and mandibular prognatizm were observed in the examination. Whether there were any mutations in the MSX1 gene was researched, and the association with this syndrome was evaluated.

15 Feb, 2016
PDF Attachment: 
e-Published: 01 Mar, 2016


Manuscripts that are Published Ahead of Print have been peer reviewed and accepted for publication by the Editorial Board of the West Indian Medical Journal. They may appear in their original format and may not be copy edited or formatted in the style guide of this Journal. While accepted manuscripts are not yet assigned a volume, issue or page numbers, they can be cited using the DOI and date of e-publication. See our Instructions for Authors on how to properly cite manuscripts at this stage. The contents of the manuscript may change before it is published in its final form. Manuscripts in this section will be removed once they have been issued to a volume and issue, but will still retain the DOI and date of e-publication.

Top of Page