A Report on 167 Cases of Array-Based Comparative Genomic Hybridization: Comparison with Previous Techniques

Array based comparative genomic hybridization has been recommended as first tier diagnostic test by The International Standard Cytogenomic Association for individuals with intellectual/developmental delay, multiple congenital anomalies and or autism spectrum disorders. This recommendation was based on analysis of results of multicenter studies and publications on a variety of patient cohorts. It was shown that the application of microarray technology increased detection of genomici imbalances in these patients by 5-10% in comparison to former techniques including karytoypting, MLPA or both. We are reporting the application of this technique to the study of 167 patients with intellectual/developmental delay and/or multiple congenital anomalies to deteerming the efficacy of the technique in Iranian patients. We found that 20.5% of the samples carried possible pathogenic imbalances. We compared this data with results of same patients following MLPA, karyotyping or both. The results indicate that application of the technique increased the detection rate in patients by various degrees based on the initial tests or combinations used. Also we were able to demonstrate that array CGH was effective in detecting mosaicism, in characterizing marker chromosomes and also in fine tuning breakpoints. We believe that array CGH is an effective and plausible alternative to karyotyping, MLPA and FISH and that it provies a more universal screening in one attempt.