Balkan Journal of Medical Genetics

COMPREHENSIVE GENETIC EVALUATION OF BULGARIAN CHILDREN WITH SYNDROMIC CRANIOSYNOSTOSIS
Delchev T.1, Hadjidekova S.2, Bichev S.3, Veleva Ts.1, Boneva I.4, Avdjieva-Tzavella D.1
*Corresponding Author: Trayan Delchev, MD, PhD, Department of Clinical genetics, University Children Hospital, Medical University of Sofia; Sofia, Bulgaria, Ivan Geshov blvd. No 11, tel: +359883482376, e-mail: trayan_delchev@abv.bg
page: 6

RESULTS

In 27 of our patients, craniosynostosis was simple (a single cranial suture is obliterated). In 10 cases, two sutures were simultaneously fused, repesenting a complex craniosynostosis (two or more sutures are prematurely and simultaneously closed). In the other 2 patients, three cranial sutures were prematurely ossified. The suture involvement distribution in our sample presented as: coronal in 44.4%, sagittal in 22.2%, metopic - 25.9% and lambdoid in 7.4%. The analysis of G-banded chromosomes yielded only one pathological finding in patient 29 - 46,ÕÕ,t(2;7) (q14;q35) – an apparently balanced reciprocal translocation of chromosomes 2 and 7, inherited from the patient‘s mother (Tables 1 and 2). MLPA revealed three pathological results - del 5q35.3 (in patient 22), dupl 2p16.1 (in patient 29) and del 4q (in patient 34) representing 7.7% of all participants in our sample (Table 2). Array CGH - pathogenic and likely pathogenic submicroscopic aberrations were found in 6 patients, representing 15.3% of all tested children (Tables 2 and 3). About 12.8% (5/39) of the patients with normal karyotype carried submicroscopic chromosomal rearrangements. Four of those defects were duplications and two were deletions.

Number 25 VOL. 25(2), 2022	Number 25 VOL. 25 (1), 2022
Number 24 VOL. 24(2), 2021	Number 24 VOL. 24(1), 2021
Number 23 VOL. 23(2), 2020	Number 22 VOL. 22(2), 2019
Number 22 VOL. 22(1), 2019	Number 22 VOL. 22, 2019 Supplement
Number 21 VOL. 21(2), 2018	Number 21 VOL. 21 (1), 2018
Number 21 VOL. 21, 2018 Supplement	Number 20 VOL. 20 (2), 2017
Number 20 VOL. 20 (1), 2017	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