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.



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