Array-CGH analysis in patients with intellectual disability and/or congenital malformations in Brazil
“Array-CGH analysis in patients with intellectual disability and/or congenital malformations in Brazil”, vol. 15, p. -, 2016.
, In several patients, intellectual disability and/or congenital malformation may be attributed to chromosomal changes. In this study, we conducted an array-CGH test of 200 patients from the Northeast of Brazil with intellectual disability and/or congenital malformation. Blood samples were collected from the proband and from their parents when possible. DNA was extracted and investigated using the array-CGH test. Findings were evaluated for the pathogenicity in databases of benign and pathogenic changes (ISCA, UCSC, DGV, and DECIPHER).