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

MATERIAL AND METHODS

Subjects We investigated 39 children with syndromic craniosynostosis referred to our department in the 2016-2020 year period. 29 of them were male and 10 were female resulting in a sex ratio of 2.9:1. Clinical selection was based on the presence of craniosynostosis along with additional dysmorphic features (SC) - documented by imaging studies (cranial radiography and/or computed tomography). Methods Conventional chromosomal analyses at 550 G-band resolution were performed on peripheral blood lymphocytes on all 39 of our patients. Multiplex Ligation-dependent Probe Amplification (MLPA) is a method used to determine the copy number of up to 45 genomic DNA sequences in a single multiplex PCR based reaction. For this study we used MLPA P245 Microdeletion Syndromes for screening of the most common microdeletion syndromes and MLPA P036 Subtelomeres Mix 1 for screening of subtelomeric deletions/ duplications. To confirm alternations discovered with MLPA P036 Subtelomeres Mix 1 we used MLPA P070 Subtelomeres Mix 2B. Array CGH - the whole genome CNVs screening was carried out by the oligo array CGH. DNA was isolated from peripheral blood by phenol-chloroform extraction. We used the OGT 4x44k format oligonucleotide microarray with a targeted CN resolution of 1 probe every 52kb and a backbone CN resolution of 1 probe every 81kb. The slides were scanned on a GenePix 4100A, two-colour fluorescent scanner (Axon Instruments, Union City, CA, U.S.A.). The arrays were analyzed by CytoSure Interpret Software.

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