OP18. GENETICS OF TRIGONOCEPHALY
BOYAN DIMITROV1, Joris Robert Vermeesch 1, Femke Hannes 1, Irina Balikova 1,2, Thomy Jl De Ravel 1, Philippe Debeer 1, Koen Devriendt 1, Jean-Pierre Fryns 1 1. Centre for Human Genetics, University Hospital Gasthuisberg, KU Lueven, Belgium 2. Department of Pediatrics, Medical University of Sofia, Bulgaria email: Boyan.Dimitrov@med.kuleuven.be
*Corresponding Author:
page: 43

Abstract

Trigonocephaly is a rare condition characterized by premature metopic sutural synostosis. As a result the head appears triangular viewed from above and there is marked hypotelorism. The prevalence is 1 in 10-15000 births with predominance of the males. There are syndromic and non-syndromic forms and the last accounts for almost 2/3 of the affected individuals. The etiology is extremely heterogeneous including autosomal recessive, autosomal dominant and X-linked form, chromosomal aberrations as well environmental factors. Over the years it turned out that many of the published cases reported as syndromic forms of trigonocephaly, for example Opitz-C syndrome, are the result of different chromosomal rearrangements, most recurrent of which are 7q, 9p and 11q subtelomeric deletions. This introduced the routine screening with locus specific subtelomeric probes as a common practice. In an aim to identify specific loci and/or genes for trigonocephaly, a group of patients with a syndromic form of this phenotype have been analyzed by CGH microarray. We will present the data of this survey and the phenotype-genotype correlations will be discussed. In addition, the efficiency of new gene hunting approaches exploring modern techniques for total genome screening available in our centre, like CGH array, will be presented.




Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006