Chromosomal Abnormalities in Idiopathic Mental Retardation Patients At A Charity Center in Hamadan, Iran

Background: chromosomal aberrations are one of the most common causes of mental retardation (mr). objectives: in this study, in order to identify the rate of chromosomal abnormalities in idiopathic mr, 50 mr patients at a charity center in hamadan, iran, were investigated. methods: fifty mentally retarded male patients without specific chromosomal abnormalities (e.g., down syndrome, fragile x syndrome, and klinefelter syndrome) were included in the study. standard cytogenetic techniques and high resolution gtg banding were performed on all the patients. results: all the patients were male, with a mean age of 37.12 years. skeletal and facial abnormalities were found in 8% and 22% of patients, respectively. all the patients showed a moderate to severe level of mental retardation. none of the patients had numerical chromosome abnormalities. two out of the 50 patients (4%) demonstrated structural chromosomal abnormalities. one patient had a paracentric inversion in chromosome 1, while the other had a pericentric inversion in chromosome 2. conclusions: the presence of structural chromosomal abnormalities (4%) in the studied mr patient population emphasizes the importance of cytogenetic investigation for all idiopathic mr patients.