einstein (São Paulo). 01/Jan/2016;14(1):30-4.
Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype
DOI: 10.1590/S1679-45082016AO3592
ABSTRACT
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.
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