Do CNVs on chromosome 15 contribute to autism development?

PostedNovember 19, 2025

UpdatedNovember 19, 2025

ByMy Patient Advice

Author: Lucia Alvarez, MSc | Reviewed by: Dr. Rebecca Fernandez, MBBS

Yes, CNVs on chromosome 15, or copy number variations on this region, have been closely studied in relation to autism. These changes, particularly in the chromosome 15q11-q13 area, are among the most frequently reported genetic findings in autism spectrum disorder research. A copy number variation involves either a duplication or deletion of a DNA segment, which can disrupt gene expression and brain development.

Changes in chromosome 15q11-q13 are linked not only to autism but also to related neurodevelopmental conditions, including epilepsy and intellectual disability. The impact varies depending on whether the CNV is inherited or occurs spontaneously, and whether it affects a maternal or paternal chromosome. While CNVs in this region do not explain all autism cases, they are considered a significant autism cause in a subset of individuals, helping guide diagnosis and tailored care.

Why Chromosome 15 Matters in Autism Genetics

Here are two key reasons CNVs on chromosome 15 are important in understanding autism development:

High association with complex presentations

CNVs in 15q11-q13 are more often found in individuals with autism who also have speech delays, motor challenges or co-occurring conditions. Identifying these variations can provide clarity on a child’s specific developmental profile and direct appropriate therapeutic support.

Potential for targeted intervention and planning

When a CNV is found on chromosome 15, it can inform early intervention strategies and help predict potential needs in learning or behaviour. Genetic counselling may also be offered to help families understand inheritance patterns and future planning.

Understanding the role of CNVs on chromosome 15 in autism provides insight into one of the better-defined genetic links to the condition. Visit providers like Autism Detect for personal consultations and further guidance on screening and support.

For a deeper dive into the science, diagnosis and full treatment landscape, read our complete guide to Genetic Influences.

Lucia Alvarez, MSc

Author

Lucia Alvarez is a clinical psychologist with a Master’s in Clinical Psychology and extensive experience providing evidence-based therapy and psychological assessment to children, adolescents, and adults. Skilled in CBT, DBT, and other therapeutic interventions, she has worked in hospital, community, and residential care settings. Her expertise includes grief counseling, anxiety management, and resilience-building, with a strong focus on creating safe, supportive environments to improve mental well-being.

All qualifications and professional experience stated above are authentic and verified by our editorial team. However, pseudonym and image likeness are used to protect the author's privacy.

Dr. Rebecca Fernandez, MBBS

Reviewer

Dr. Rebecca Fernandez is a UK-trained physician with an MBBS and experience in general surgery, cardiology, internal medicine, gynecology, intensive care, and emergency medicine. She has managed critically ill patients, stabilised acute trauma cases, and provided comprehensive inpatient and outpatient care. In psychiatry, Dr. Fernandez has worked with psychotic, mood, anxiety, and substance use disorders, applying evidence-based approaches such as CBT, ACT, and mindfulness-based therapies. Her skills span patient assessment, treatment planning, and the integration of digital health solutions to support mental well-being.

All qualifications and professional experience stated above are authentic and verified by our editorial team. However, pseudonym and image likeness are used to protect the reviewer's privacy.