Genomic Copy Number Variations in the Autism Clinic-Work in Progress
Related Experiment Video
Updated: Jan 28, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
1George A. Jervis Clinic, NYS Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, NY, United States.
Abstract:
The development of advanced technology for microarray-based chromosomal studies helped discover increased prevalence of genomic copy number variants (CNVs) in individuals with autism spectrum disorder (ASD). Chromosomal microarray analysis (CMA) is now an important tool for clinical investigations in patients with ASD. While this technology helps identify high proportion of CNV positive individuals among patients with autism, the clinical interpretation of such genomic rearrangements is often challenged by inconsistent genotype-phenotype correlations. Possible explanations of such inconsistencies may involve complex interactions of potentially pathogenic CNV with additional (secondary) CNVs or single nucleotide variants (SNVs). Other involved factors may include gender-specific effects or environmental contributions. Development of risk models for interpreting such complex interactions may be necessary in order to provide better informed genetic counseling to the affected families.
More Related Videos
10:44Generating Whole Bacterial Genomes from Clinical Samples using a Target Enrichment Workflow
Published on: August 15, 2025
09:32An Array-based Comparative Genomic Hybridization Platform for Efficient Detection of Copy Number Variations in Fast Neutron-induced Medicago truncatula Mutants
Published on: November 8, 2017
Related Concept Videos
What is Variation?
The range, standard deviation, standard error, and variance are the different measures of variation.
Range: The range is the difference between its maximum and...
Conservative Site-specific Recombination and Phase Variation
The recognition sites for Cre recombinase called LoxP...
Autism Spectrum Disorder
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Genomics
Variation
When independent and dependent variables are plotted on a scatter plot, the slope of a line is a value that describes the rate of change between the two...
Genome Size and the Evolution of New Genes