Rare Hematology News

Disease Profile

Chromosome 4q duplication

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.


US Estimated

Europe Estimated

Age of onset





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


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.


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.


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


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.


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.


Not applicable


Other names (AKA)

Duplication 4q; Trisomy 4q; 4q duplication;


Chromosome Disorders


Chromosome 4q duplication is a chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 4. The severity and specific symptoms depend on the size and location of the duplication, and which genes are involved. Features that have been described in some people with chromosome 4q duplication include developmental delay, intellectual disability, behavioral problems, birth defects, and distinctive facial features. Most cases are inherited from an unaffected parent with a chromosomal rearrangement called a balanced translocation. Some cases are not inherited and occur sporadically. Treatment is based on the signs and symptoms present in each person.[1]


The signs and symptoms associated with having a chromosome 4q duplication may depend on the size and location of the duplication; this affects which genes are involved. Since few cases of 4q duplication have been described in the literature, it is difficult to predict severity or the specific features that a person will have.

Someone with a small duplication may be very mildly affected and have no developmental delays. Others, even within the same family, may have varying degrees of developmental delay, any of several types of birth defects, and/or distinctive facial features.[1]

While very few cases have been described, it seems that those with a very small duplication of material close to the middle of the chromosome (called a proximal duplication) are usually healthy with developmental delay and/or learning difficulties. Larger proximal duplications may be associated with heart or kidney problems.[1]

When the duplication involves material closer to the tip of the chromosome (called a distal duplication), it may be associated with thumb and kidney abnormalities, developmental delay, and distinctive facial features.[1]

If a chromosome 4q duplication occurs with another chromosome abnormality (such as a deletion of part of another chromosome), the severity and features in an affected person may differ and will depend on the effects of the other chromosome abnormality as well.

We encourage you to view Unique's guide for people and families with a chromosome 4q duplication. The information they provide is drawn from what is known about 43 people with a chromosome 4q duplication.


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

    • 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 Chromosome 4q duplication.

      In-Depth Information

      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 4q duplication. Click on the link to view a sample search on this topic.

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