Evaluation of genetic analysis results of patients who applied with the pre-diagnosis of growth and developmental delay between 2007-2019

Aim: Our aim in this study is to diagnose patients with growth and development retardation in order to measure the chromosome analyses performed in our laboratory, it determines the degree of accuracy of the approach of physicians on this issue and the level of success of our laboratory in this study. Material and Methods: Cytogenetic analyses of 360 patients who came to our laboratory between 2007 and 2019 with a preliminary diagnosis of Growth and Developmental Retardation were evaluated retrospectively. Results: Of the 360 patients who came to our laboratory with a preliminary diagnosis of GDR, 244 had normal female ratio (66.9%) and 15 had normal male ratio (4.2%). In 29 cases, numerical chromosomal anomaly was detected and its rate was (7.8%). The ratio of 45,X (Turner syndrome) in 15 cases (4.4%), the ratio of 45,X/46,XX (Mosaic Turner syndrome) in 5 cases (1.4%). 47,XX,+21 ratio (0.8%) in 4 females and 47,XX,+21 ratio (0.6%) in 2 males were observed. Klinefelter syndrome was seen in 2 cases and its rate was (0.6%). Inversion is the most common structural chromosomal anomaly in patients presenting with a pre-diagnosis of GDR. In 7 cases (female 7, male 1) ratio (2%) 46,XX,inv(9)(p13q13) and 46,XY,inv(9)(p13q13) were observed. In 1 female, 46,XX,inv(9)(p12q12) ratio (0.3%) was determined. In one female, 46,XX, t(8;18) ratio (0.3%) was found. Polymorphic variants were observed in 65 of 360 patients who came to our laboratory. Of these, 54 are heterochromatin polymorphic variants, accounting for about (15%) of cases. Satellite polymorphic variants were detected in 11 cases, accounting for approximately (2.9%) cases. Conclusion: Our study revealed that chromosomal analysis is one of the basic clinical approaches in terms of accurately diagnosing the disease in pediatric patients with growth and developmental delays, and various mental, social and speech problems.