TY  - JOUR
TI  - Clinical Characteristics of Children with Neurodevelopmental Delay and Pathogenic Copy Number Variations in Chromosomal Microarray Analysis
AB  - Objective: In this study, we report the clinical characteristics of a small cohort of children with neurodevelopmental delay and pathogenic copy number variations (CNV) in chromosomal microarray. Materials and Methods: We retrospectively analyzed children aged 0-18 years with neurodevelopmental delay and a pathogenic CNV in the chromosomal microarray analysis, who had been evaluated in the pediatric genetics and pediatric neurology outpatient clinics of a tertiary hospital between August 2017 and March 2021. Results: Twenty-four patients were included, 15 (62.5%) of them were girls. The mean age at diagnosis was 47.0±42.0 months (age range: 4-133 months). Most of the children (n=17, 70.8%) were diagnosed with welldefined microdeletion/microduplication syndromes. Of 28 CNVs in 24 patients; 21 (75%) were deletions, 7 (25%) were duplications. Fifteen (62.5%) of them had GDD, seven (29.2%) had ID, and three (12.5%) had ASD. A history of preterm birth and small birth weight for gestational age were present in four and five children, respectively. Neuroimaging was compatible with hypoxic-ischemic injury in two children and hypoglycemic sequel in one child. Facial dysmorphism was present in 19 (79.2%), hypotonicity in 14 (58.3%), epilepsy in eight (33.3%), microcephaly in seven (29.2%), macrocephaly in two (8.3%), hearing impairment in two (8.3%), and visual impairment in three (12.5%) children. Conclusion: Chromosomal microarray analysis is a valuable tool in patients with unexplained neurodevelopmental delay. Even in children with brain injury secondary to perinatal asphyxia and neonatal hypoglycemia, microarray analysis should be performed in cases with concomitant dysmorphism and/or multisystem involvement.
AU  - Akgun-Dogan, Ozlem
AU  - Maraş Genç, Hülya
AU  - Kutlubay, Büşra
AU  - sozen, hatice gulhan
AU  - Kendir Demirkol, yasemin
AU  - BEKLEN, HANDE
DO  - 10.26650/jchild.2022.1112958
PY  - 2022
JO  - Çocuk Dergisi
VL  - 22
IS  - 3
SN  - 1302-9940
SP  - 151
EP  - 158
DB  - TRDizin
UR  - http://search/yayin/detay/1174575
ER  -