Objectives: The objective of this research was to compare the genotype-phenotype correlation of genetic diseases located on chromosome 17 in our subjects with results from scientific data. Materials and methods: Through a retrospective cross-sectional study, conducted at the University Hospital of Split at the Department of Pediatrics in the period from January 1st 2018 until December 31st 2022., we analyzed patients with a positive aCGH genetic finding and selected subjects with a constitutional gene aberration of chromosome 17. From the second group of subjects diagnosed by MLPA and NGS methods, we selected subjects with genetic findings of pathogenic and likely pathogenic gene variants on chromosome 17. We presented data on the gene locus, type and size of CNVs, morbid genes, variant classification, age, sex and phenotype. Results: We included in the research 141 (16.5%) subjects with positive aCGH test results out of the total number of 852 subjects. Out of 141 subjects with CNVs 80 subjects (57%) were diagnosed with deletions, 40 (28%) with duplications, and 21 (15%) subjects had complex CNVs. The male gender was more frequent in all three groups. The most common deletion syndrome was on chromosome 22 (17.5%), and the most common duplication syndrome was on chromosome 15 (17.5%). On chromosome 17 microdeletion syndromes (7/12) were more frequent than microduplication syndromes (5/12). The majority of subjects (6/12) had a recurrent CNV of the 17q12 region with a size of around 1.4 Mb and with a phenotype consistent with data described in the scientific literature. Out of a total of 602 subjects tested by MLPA and NGS methods, 11 subjects with diagnosed pathogenic or likely pathogenic variants of the chromosome 17 gene were included in the study. There were 5 subjects diagnosed with a pathogenic variant of the NF1 gene whose aberration leads to the clinical phenotype of neurofibromatosis type 1 and 4 subjects with a pathogenic variant of the PMP22 gene whose aberration leads to the clinical picture of CMT1A. Also, 2 subjects with neurofibromatosis type 1 and 1 subject with CMT1A were diagnosed by aCGH method. Conclusions: The diagnosis of genetic aberration on chromosome 17 was established in the majority of subjects under the age of 5 years. Genetic confirmation of the clinical diagnosis obtained by molecular cytogenetic testing is important because it gives us insight into a more precise phenotypic map of chromosome 17 genes. The phenotypic presentation of the genetic aberrations of the studied subjects corresponds with data from the scientific literature