Analysis of parental origin of de novo pathogenic CNVs in patients with intellectual disability
Samara Socorro Silva Pereira,
Irene Plaza Pinto,
Victor Cortázio do Prado Santos
et al.
Abstract:Chromosomal Microarray Analysis (CMA) has increased the comprehension of the mechanisms of copy number variation (CNV) formation, classification of these rearrangements, type of recurrence, and its origin, and has also been a powerful approach to identifying CNVs in individuals with intellectual disability. The aim of this study was to establish the parental origin of de novo pathogenic CNV in a cohort of patients with intellectual disability from the public health system of Goiás-Brazil. CMA was done in 76 tr… Show more
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