Objectives: One of the most common, structurally balanced chromosome rearrangements is the pericentric inversion of chromosome (inv). It is considered to be a variant of the normal karyotype, and has been found in both normal populations and patients with various abnormal phenotypes. The aim of this study was to determine the frequency of chromosome 9 rearrangement in the Malatya Province and check whether it is correlated with certain diseases.
Methods: In this study, we investigated the karyotype analysis of 4168 patients admitted in the Turgut Özal Medical Center and Research Hospital, Genetic Disease Diagnosis Center Laboratory, between 2014 and 2016 and retrospectively reviewed their clinical data. Chromosomes from cultured peripheral blood lymphocytes were analyzed using Giemsa Trypsin-Giemsa (GTG) banding.
Results: Pericentric inversion was detected in 71 (1.7 %) of 4168 cases, including 32 (45.1%) cases with inv(9) causing infertilty, 21 (29.6%) causing growth retardation, four (5.6%) causing multiple spontaneous abortion, and 14 (19.7%) causing other abnormalities, all of which were referred to our laboratory.
Conclusion: In this study, the distribution of inv (9) in the Malatya Province was shown, and it is believed that these results would contribute to the knowledge regarding the incidence of inv (9) in the Eastern Anatolia Region and Turkey.