Experiences in microarray-based evaluation of developmental disabilities and congenital anomalies.

BACKGROUND: Chromosomal microarray analysis is the first-tier test for the evaluation of developmental disabilities and congenital anomalies. In this report, we present CMA results of 971 patient and 301 parent samples. MATERIALS AND METHODS: Among 971 patient samples, 133 (13.6%) had pathogenic variants. RESULTS: While analyzing, an "in-house" variant database was also used besides other databases. Owing to this, we have found chance to report the most frequent benign variants in Turkish population. CONCLUSION: With the additional data we acquired in this study, we also emphasized the high potential of CMA in revealing single gene disorders and novel gene-phenotype associations as well as copy number variations.