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
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Abstract
Syndromic craniosynostosis (SC) is a genetically
determined premature closure of one or more of the cranial
sutures, which may result in severe dysmorphism,
increased intracranial pressure along with many other clinical
manifestations. The considerable risk of complications
along with their significant incidence makes these cranial
deformations an important medical problem.
Aiming to elucidate the complex genetic etiology of
syndromic craniosynostosis, we investigated 39 children,
screened systematically with a combination of conventional
cytogenetic analysis, multiplex ligation-dependent
probe amplification (MLPA) and array-based comparative
genomic hybridisation (aCGH).
Pathological findings were established in 15.3%
(6/39) of the cases using aCGH, in 7.7% (3/39) using
MLPA and 2.5% (1/39) using conventional karyotyping.
About 12.8% (5/39) of the patients with normal karyotype
carried submicroscopic chromosomal rearrangements. Duplications
were found to be more common than deletions.
Conclusion: The systematic genetic evaluation of
children with SC revealed a high prevalence of submicrosopic
chromosomal rearrangements (most commonly
duplications). This suggests the leading role of those defects
in the pathogenesis of syndromic craniosynostosis.
The genetic complexity of SC was reaffirmed by the discovery
of pathological findings in various chromosomal
regions. Certain genes were discussed in conjunction with
craniosynostosis.
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