Abstract

Objective: In this study, array comparative genomic hybridization (aCGH) results of 9 pediatric patients with mental retardation, developmental retardation, autism and different dysmorphic findings were evaluated retrospectively.

Methods: Chromosome analysis and aCGH analysis were performed from peripheral blood samples in all cases.

Results: Chromosome analysis results were normal in all cases. In aCGH analysis results, chromosomal region losses in 5 cases (1p33/7q11.23/10q25.3q26.13/15 q11.2/22q11.21), chromosomal region gains in 3 cases (2p15/ 6q22.31/Xp22.2), 7q11.23 chromosomal loss, gains in 9p24.3 and 22q11.22 chromosomal regions were detected together in 1 case.

Conclusion: Except for familial chromosome anomalies and congenital malformation syndromes that are easily recognized due to dysmorphic features, aCGH analysis is a first-step test with high diagnostic resolution in mental retardation, autism and congenital anomalies.