Browsing by Author "Jamali, Peyman"
Now showing 1 - 1 of 1
Results Per Page
Sort Options
Item Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization.(2013-10) Behjati, Farkhondeh; Firouzabadi, Saghar Ghasemi; Kariminejad, Roxana; Vameghi, Roshanak; Sajedi, Firouzeh; Shafaghati, Yousef; Ghasemlou, Behruz Ebrahimizade; Shojaei, Azadeh; Jamali, Peyman; Bahman, Ideh; Najmabadi, HosseinBACKGROUND: Mental retardation (MR) has a prevalence of 1‑3% and genetic causes are present in more than 50% of patients. Chromosomal abnormalities are one of the most common genetic causes of MR and are responsible for 4‑28% of mental retardation. However, the smallest loss or gain of material visible by standard cytogenetic is about 4 Mb and for smaller abnormalities, molecular cytogenetic techniques such as array comparative genomic hybridization (array CGH) should be used. It has been shown that 15‑25% of idiopathic MR (IMR) has submicroscopic rearrangements detectable by array CGH. In this project, the genomic abnormalities were investigated in 32 MR patients using this technique. MATERIALS AND METHODS: Patients with IMR with dysmorphism were investigated in this study. Karyotype analysis, fragile X and metabolic tests were first carried out on the patients. The copy number variation was then assessed in a total of 32 patients with normal results for the mentioned tests using whole genome oligo array CGH. Multiple ligation probe amplification was carried out as a confirmation test. RESULTS: In total, 19% of the patients showed genomic abnormalities. This is reduced to 12.5% once the two patients with abnormal karyotypes (upon re‑evaluation) are removed. CONCLUSION: The array CGH technique increased the detection rate of genomic imbalances in our patients by 12.5%. It is an accurate and reliable method for the determination of genomic imbalances in patients with IMR and dysmorphism.