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

RESULTS

The clinical characteristics of 49 patients who were born small for their gestational age are summarized in Table 1. Molecular karyotyping yielded clinically significant results in 16 cases, resulting in a detection rate of 32.65%. We identified 13 deletions, ranging in size from 442 kb to 15480 kb, and six duplications, 404 kb to 64280 kb in size. Additionally, three patients had two csCNVs. In ten cas- es, we identified CNVs linked to well-known syndromes (see Table 2). The most common was Williams syndrome, Table 1. Overview of the phenotypic characteristics of the patient group diagnosed in three patients (18.7%). Other syndromes previously associated with intrauterine growth restriction include Koolen de Vries syndrome, Prader-Willi syndrome, Miller-Dieker syndrome, Dryer syndrome, and 1q21.1 microdeletion syndrome. In one patient CNVs typical for DiGeorge and 7q11.23 microduplication were detected. However, in patients with either syndrome, SGA is not one of the phenotypic characteristics. Another detected microdeletion that typically does not include SGA is the 16p13.11 microdeletion. We identified unique CNVs in six cases. The main phenotypic characteristics and microar- ray findings of all patients with csCNVs are summarized in Table 2. Most of the patients were in neonatal age (6 of them) and besides SGA they had additional clinical features. Older children had mild to moderate develop- mental delay/intellectual disabilities (DD/ID) and other comorbidities. To determine if additional specific phenotypic char- acteristics could predict the detection of csCNV, we ana- lyzed the frequency of these phenotypes in two groups: those with positive molecular karyotype findings and those without. All phenotypes except skeletal malformations were more common in a group with pathogenic CNVs compared to the group with normal molecular karyotype. It was pronounced for urogenital anomalies and micro- cephaly, although those differences did not reach statistical significance (Table 3).

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