PL EN


Preferences help
enabled [disable] Abstract
Number of results
2010 | 51 | 2 | 219-221
Article title

Investigation of the 22q11.2 candidate region in patients with midline facial defects with hypertelorism

Content
Title variants
Languages of publication
EN
Abstracts
EN
Midline facial defects with hypertelorism (MFDH) are mainly characterized by ocular hypertelorism and bifid nose. They are often associated with structural and functional anomalies of the central nervous system similar to those found in 22q11.2 deletion syndromes. In addition, there are some isolated reports of MFDH and 22q11.2 deletion. These findings suggest that MFDH may be part of the spectrum of 22q11.2 deletion syndromes. To test this hypothesis, 10 individuals with MFDH were analyzed by fluorescent in situ hybridization (FISH), but no 22q11.2 deletion was detected. In view of this result, the TBX1 gene located within the 22q11.2 candidate region was screened. A new sequence variant (1132GA) was identified in one patient. This variant was not found in 110 control individuals genotyped. Considering the rarity of this condition and results of this study, the involvement of the 22q11.2 chromosomal region in the pathogenesis of MFDH could not be excluded.
Discipline
Year
Volume
51
Issue
2
Pages
219-221
Physical description
References
Document Type
ARTICLE
Publication order reference
M. Simioni, Department of Medical Genetics, University of Campinas (UNICAMP), Tess?lia Vieira de Camargo Street 126, 13084-971. Campinas, SP, Brazil
YADDA identifier
bwmeta1.element.element-from-psjc-35dd3ed6-4148-3008-b6da-ba7625a69712
Identifiers
JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.