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Disease Profile

16p11.2 duplication

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Susceptibility to Autism, 14B; AUTS14B; 16p11.2 duplication syndrome;

Summary

16p11.2 duplication is a chromosomal change in which a small amount of genetic material within chromosome 16 is abnormally copied (duplicated). This duplication occurs in the short (p) arm of chromosome 16 at a position known as 11.2. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms while others may have features such as low weight; small head size; behavioral problems; features of autism spectrum disorder; developmental delay; intellectual disability; and speech and language delays. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent.[1][2][3] Treatment depends on signs and symptoms present in each individual.

Symptoms

The signs and symptoms present in individuals with a 16p11.2 duplication vary greatly. While some individuals may have developmental delays, others may have few, if any medical or developmental concerns. The most common features include:[1][2]

  • Developmental delays including areas of thinking, learning, speech, language and motor (movement) skills
  • Behavior concerns including features of an autism spectrum disorder and attention deficit hyperactivity disorder
  •  Psychiatric conditions including schizophrenia, anxiety, and depression
  • Altered growth patterns such as short stature, or difficulty gaining weight 
  •  Differences in brain structure and function, including a smaller head circumference (microcephaly
  • Seizures

Some people with a 16p11.2 duplication are born with birth defects such as heart defects, cleft lip and palate, and differences in urinary tract development. There does not appear to be a consistent pattern of birth defects found in individuals with a 16p11.2 duplication.[3]

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • Genetics Home Reference (GHR) contains information on 16p11.2 duplication. This website is maintained by the National Library of Medicine.
      • Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about 16p11.2 duplication.

        In-Depth Information

        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • PubMed is a searchable database of medical literature and lists journal articles that discuss 16p11.2 duplication. Click on the link to view a sample search on this topic.

          References

          1. 16p11.2 duplication. Genetics Home Reference (GHR). October 2014; https://ghr.nlm.nih.gov/condition/16p112-duplication. Accessed 5/6/2015.
          2. 16p11.2 Duplication Fact Sheet. Simons VIP Connection. 9/8/2015; https://www.simonsvipconnect.org/files/Fact%20Sheets/16p11_2_Dup_Factsheet_v1_0_FINAL.pdf.
          3. 16p11.2 microduplications. Rare Chromosome Disorders Support Group (Unique). 2014; https://www.rarechromo.org/information/Chromosome%2016/16p11.2%20microduplications%20FTNW.pdf.

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