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
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Abstract
The association between small for gestational age
birth and chromosomal abnormalities identified through
karyotyping is well-established. Notably, advancements in
cytogenetic techniques have shifted from routine karyo-
typing to the recommended use of microarray technology.
This transition allows higher resolution and the detection
of sub-microscopic copy number variants (CNVs).
Our study included 49 patients born small for ges-
tational age, 27 males and 22 females. Clinical data were
gathered from reports by clinical genetic specialists, and
a questionnaire was included in the referral list to our
laboratory. All participants were of pediatric age, ranging
from neonatal to 12 years old. Chromosomal microarray
testing was conducted by the Agilent SurePrint G3 Human
CGH Microarray 8×60K.
The application of molecular karyotyping yielded
clinically significant results in 16 cases (32.65%), which
included 13 deletions and 6 duplications. Three patients
presented with two clinically significant CNVs (csCNVs).
In ten cases, we identified recurrent microdeletion or micro-
duplication syndromes well-documented in the literature:
Williams syndrome as the most commonly identified (three
patients), and others like Koolen de Vries, Prader-Willi,
Miller-Dieker, Dryer, DiGeorge syndrome, 7q11.23 mi-
croduplication, 16p13.11 microdeletion, and 1q21.1 mi-
crodeletion syndrome. Six patients had rare non-recurrent
pathological CNVs. There was no statistically significant
difference between patients with csCNVs and those without
regarding the presence of intellectual disabilities, central
nervous system, cardiac or skeletal malformations.
Chromosomal microarray proves to be a useful diag-
nostic tool in the etiology diagnosis of children born small
for gestational age.
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