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.