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What is Copy Number Variation?

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Summary

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Copy number variation (CNV) occurs when certain parts of a person’s DNA are repeated a different number of times compared to others. These repeated sections can affect how the body develops and functions.

Frequently Asked Question

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Is Copy Number Variation common?

Yes, CNVs are actually quite common and can be found in every human being. However, certain variations are more closely linked to developmental conditions.

Can Copy Number Variation affect my child's learning?

Absolutely, CNVs can impact learning speed, behavior, and even special talents or interests your child might have.

Are there any health risks associated with Copy Number Variation?

Some CNVs may make a child more susceptible to allergies or medical conditions, so it’s essential to consult with healthcare professionals for guidance.

Scientific Definition

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Copy number variation (CNV) is a type of structural variation in the genome where sections of DNA, ranging from a few hundred base pairs to several million base pairs, are present in different copies compared to a reference genome. CNVs can involve duplications, deletions, or complex rearrangements of DNA segments. These variations can influence gene expression, phenotypic traits, and susceptibility to certain genetic disorders, including neurodevelopmental conditions like autism spectrum disorder and intellectual disability.

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Real World Example of Copy Number Variation

Sarah, a 7-year-old girl, has always struggled with social interactions and communication. Her parents noticed these challenges early on:

  • Delayed speech development: Sarah didn’t start speaking until she was 3 years old, much later than her peers.
  • Difficulty with social cues: She often misses nonverbal cues and struggles to understand sarcasm or jokes.
  • Intense interests: Sarah has a deep fascination with trains and can talk about them for hours, even if others aren’t interested.

After a comprehensive evaluation, genetic testing revealed that Sarah has a copy number variation affecting a gene associated with autism spectrum disorder. This finding helped her parents and doctors better understand her unique challenges and develop a personalized support plan to help her thrive.

How does Copy Number Variation work?

Copy number variations (CNVs) are used in genetic research and clinical diagnostics to identify potential genetic factors contributing to certain conditions, including neurodevelopmental disorders. Here are some examples:

  • Autism spectrum disorder: Some CNVs are associated with increased risk of autism.
  • Intellectual disability: Certain CNVs can impact cognitive development and function.
  • Schizophrenia: Research suggests that specific CNVs may play a role in the development of schizophrenia.
Condition Associated CNVs
Autism spectrum disorder 16p11.2, 15q11-q13, 22q11.2
Intellectual disability 1q21.1, 16p11.2, 16p12.1

By understanding the role of CNVs, researchers can develop targeted therapies and personalized interventions to support individuals with these conditions, ultimately improving their quality of life.