Project description:10 patients with Intellectual Disability diagnosed with a clinically relevant copy number change, selected to assess the dection performance of alternative platforms. 10 Affymetrix arrays were performed according to the manufacturer's directions on DNA extracted from peripheral blood samples.
Project description:10 patients with Intellectual Disability diagnosed with a clinically relevant copy number change, selected to assess the dection performance of alternative platforms.
Project description:Mate pair sequencing for the detection of balanced and unbalanced chromosomal aberrations in patients with intellectual disability and congenital malformations
