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.
CITATION STYLE
Pratte-Santos, R., Ribeiro, K. H., Santos, T. A., & Cintra, T. S. (2016). Analysis of chromosomal abnormalities by CGH-array in patients with dysmorphic and intellectual disability with normal karyotype. Einstein (Sao Paulo, Brazil), 14(1), 30–34. https://doi.org/10.1590/S1679-45082016AO3592
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