Balkan Journal of Medical Genetics

CHROMOSOMAL MICROARRAY IN CHILDREN BORN SMALL FOR GESTATIONAL AGE – SINGLE CENTER EXPERIENCE
Perović D1, Barzegar P2, Damnjanović T1, Jekić B1, Grk M1, Dušanović Pjević M1, Cvetković D3, Đuranović Uklein A1, Stojanovski N1, Rašić M1, Novaković I1, Elhayani B2, Maksimović N1
*Corresponding Author: Corresponding Author: Nela Maksimovic, PhD, University of Belgrade Faculty of Medicine, Insti- tute of Human Genetics, Visegradska 26a, 11000 Belgrade, Serbia, Tel: +381113607052; Email: nela.maksimovic@med.bg.ac.rs
page: 13

MATERIAL AND METHODS

Patients Our retrospective study included 49 patients born small for gestational age (27 males and 22 females). All patients were of pediatric age, ranging from newborn to 12 years. Their measured birth weights were below the 10th percentile for gestational age. Each patient was examined by clinical genetic specialists who provided detailed pheno- typic reports. Clinical data were collected based on special- ists’ reports and the questionnaire included in the laboratory referral list. All guardians of the patients provided informed consent. The study was approved by the Ethics Committee Faculty of Medicine, University of Belgrade (1322/VII‐4). CNV detection and interpretation Patients’ DNA was isolated from 3-5ml of peripheral blood by the standard salting‐out method [13]. The ar- ray‐CGH method was performed using Agilent microarray oligonucleotide slides (SurePrint G3 Human CGH Micro- array 8 × 60K) (Agilent Technologies, Santa Clara, CA, USA) according to manufacturer’s protocol. Microarray slides were scanned with a DNA Microarray Scanner and data were obtained by Cytogenomic software (Agilent Technologies). Genomic positions were based on human genome reference sequence GRCh 37/hg19. All identified copy number variations (CNVs) were analyzed and classified according to the most recent guide- lines from the American College of Medical Genetics and Genomics (ACMG) [14]. The significance of these variants was evaluated based on several factors, including type (gain or loss), size, gene content (particularly dosage sensitivity), and inheritance pattern, all considered to the patient’s clini- cal phenotype. To ensure proper classification of detected CNVs, a comprehensive review of relevant peer-reviewed literature and accessible databases such as PubMed, the Da- tabase of Genomic Variants (DGV), DECIPHER, ClinGen, and Online Mendelian Inheritance in Man (OMIM) has been performed. Benign CNVs were not reported. Patho- genic and likely pathogenic CNVs are considered clinically significant (csCNV). The diagnostic yield in our study was determined by detecting at least one csCNV in a patient. Statistical analysis Statistical analysis was performed by Pearson’s chi‐ squared (χ2) or Fisher’s exact test using SPSS v.20.0 (SPSS Inc., Chicago, IL, USA).

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