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Updated: Mar 22, 2026
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with
Rodrigo Pratte-Santos1, Katyanne Heringer Ribeiro2, Thainá Altoe Santos2
1Universidade Federal do Espírito Santo, Vitória, ES, Brazil.
Objective:
To investigate chromosomal abnormalities by CGH-array in patients with dysmorphic features and intellectual disability with normal conventional karyotype.
Methods:
Retrospective study, carried out from January 2012 to February 2014, analyzing the CGH-array results of 39 patients.
Results:
Twenty-six (66.7%) patients had normal results and 13 (33.3%) showed abnormal results - in that, 6 (15.4%) had pathogenic variants, 6 (15.4%) variants designated as uncertain and 1 (2.5%) non-pathogenic variants.
Conclusion:
The characterization of the genetic profile by CGH-array in patients with intellectual disability and dysmorphic features enabled making etiologic diagnosis, followed by genetic counseling for families and specific treatment.
