Microarray CGH (aCGH) analysis of a patient with Mental Retardation (MR)

Background: Mental Retardation occurs with the prevalence of 2%-3% of general population. Molecular karyotyping by 1-Mb resolution microarray revealed that pathological genomic imbalances were found in 14%-20% of MR. Aim: The aim of this study is to find the submicroscopic rearrangements in patient with MR using the custom BAC microarray (probe spacing at 0.75 Mb throughout the human genome). Conclusion: We identified approximate 2.0-Mb deletion on 9q33.3-q34.11 in a female with MR (Patient 1). Keywords: array CGH Sample analyzed: a female with MR (Patient 1) aCGH experiment: We developed and used custom 4.2K BAC microarray (probe spacing at 0.75 Mb throughout the human genome). To minimize the false positive result, we performed aCGH experiment in duplicate with dye-swaps. Validation of aCGH: Results were validated by Fluorescence in situ hybridization (FISH).