Several pediatric conditions are linked to CNVs. Common examples include:
Autism Spectrum Disorders (ASD): CNVs have been implicated in the etiology of ASD, with certain deletions and duplications associated with increased risk. Intellectual Disability: Many children with intellectual disabilities have been found to possess pathogenic CNVs. Congenital Heart Defects: Some CNVs are linked to the development of various structural heart anomalies. Neurodevelopmental Disorders: CNVs can affect brain development and function, leading to conditions like ADHD and epilepsy. Craniofacial Abnormalities: Certain CNVs are associated with syndromes that present with distinctive facial features.
