| Popis: |
Introduction: Chromosomal irregularities include numerical and structural chromosomal anomalies and are examined by cytogenetic methods. These methods include conventional cytogenetic and molecular cytogenetic methods. In this study, it was aimed to detect numerical and structural anomalies that are encountered more frequently with cytogenetic methods and to discuss possible consequences of genetic diseases after clinical evaluation. Method: In this study, 286 cases with postnatal chromosome analysis indication were included. Phytohemagglutinin (PHA) -induced peripheral blood lymphocytes cultures were used for the study. The chromosomes of 20 G-banded metaphases (500-550 band level) were examined for numerical and structural chromosome abnormalities. Twenty G banded metaphases were evaluated according to the 2016 International System for Human Cytogenetic Nomenclature (ISCN). Results: Chromosome anomalies were detected in 30 cases (9%). 20 cases (6,9%) of them were trisomy 21 (down syndrome), 8 cases (2,7%) were gender anomaly, and 2 cases (0.6%) were balanced translocation carriers. Conclusions: Cytogenetic analysis results are consistent with the rates reported in the literature.Balanced translocation carriers are healthy but unbalanced gametes may occur during gametogenesis. Therefore, preimplantation (PGD) genetic diagnosis is recommended in all pregnancies and pregnancy follow-up is recommended. The family is given genetic counseling. |
