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Disease Profile

Chromosome 4q deletion

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.


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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)

Deletion 4q; Monosomy 4q; 4q deletion;


Chromosome Disorders


Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion include distinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature.[1][2] Most cases are not inherited, although affected people can pass the deletion on to their children.[3][4] Treatment is based on the signs and symptoms present in each person.[5]


The signs and symptoms of chromosome 4q deletion vary significantly depending on the size and location of the deletion and which genes are involved. Common features that may be shared by affected people include:[2][1][4]

  • Distinctive craniofacial features such as a depressed nasal bridge, cleft lip/palate, and micrognathia
  • Skeletal abnormalities including hip dysplasia and malformations of the fingers, toes, or limbs (arms/legs)
  • Heart defects and/or arrhythmias
  • Hypotonia (reduced muscle tone)
  • Seizures
  • Short stature
  • Developmental delay
  • Intellectual disability
  • Metabolic disorders
  • Gastrointestinal problems
  • Kidney abnormalities


People with chromosome 4q deletion are missing genetic material located on the long arm (q) of chromosome 4 in each cell. Scientists suspect that many of the features seen in people affected by this condition are caused by the deletion and/or disruption of certain genes found on 4q. The severity of the condition and the associated signs and symptoms vary depending on the size and location of the deletion and which genes are involved. For example, deletion of the following genes may contribute to the features seen in some affected people:[3]

Researchers are working to learn more about the other genes on 4q that may contribute to the features seen in people with a chromosome 4q deletion.


There are several different specialized tests that can be used to diagnose a chromosome 4q deletion. These include:[6]

  • Karyotype a karyotype is a laboratory test that produces an image of a person's chromosomes. This test can be used to diagnose large deletions.
  • FISH a laboratory technique that is used to detect and locate a specific DNA sequence on a chromosome. During FISH, a chromosome is exposed to a small DNA sequence called a probe that has a fluorescent molecule attached to it. The probe sequence binds to its corresponding sequence on the chromosome. This test can be used in combination with karyotyping for deletions that are too small to be seen on karyotype, alone. However, FISH is only useful if the person ordering the test suspects there is a deletion of a specific region of 4q.
  • Array CGH a technology that detects deletions that are too small to be seen on karyotype.


Because chromosome 4q deletion affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this deletion varies based on the signs and symptoms present in each person. For example, babies with congenital heart defects and certain skeletal abnormalities may require surgery. Children with bone or muscle problems and/or delayed motor milestones (i.e. walking) may be referred for physical or occupational therapy. Certain medications may be prescribed to treat seizures. Special education services are often necessary for children with intellectual disability.[5][2][4]

Please speak to your healthcare provider if you have any questions about your personal medical management plan.


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

      In-Depth Information

      • PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 4q deletion. Click on the link to view a sample search on this topic.


        1. Strehle EM, Bantock HM.. The phenotype of patients with 4q-syndrome. Genet Couns. 2003; 14(2):195-205. https://www.ncbi.nlm.nih.gov/pubmed/12872814.
        2. Markiewicz MR, Verschueren D, Assael LA. Chromosome 4q deletion syndrome: craniofacial characteristics associated with monosomy of the long arm of chromosome 4q. Cleft Palate Craniofac J. September 2010; 47(5):518-522. https://www.ncbi.nlm.nih.gov/pubmed/20170389.
        3. Strehle EM, Yu L, Rosenfeld JA, Donkervoort S, Zhou Y, Chen TJ, Martinez JE, Fan YS, Barbouth D, Zhu H, Vaglio A, Smith R, Stevens CA, Curry CJ, Ladda RL, Fan ZJ, Fox JE, Martin JA, Abdel-Hamid HZ, McCracken EA, McGillivray BC, Masser-Frye D, Huang T. Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region. Am J Med Genet A. September 2012; 158A(9):2139-2151. https://www.ncbi.nlm.nih.gov/pubmed/22847869.
        4. Xu W, Ahmad A, Dagenais S, Iyer RK, Innis JW. Chromosome 4q deletion syndrome: narrowing the cardiovascular critical region to 4q32.2-q34.3. Am J Med Genet A. March 2012; 158A(3):635-640. https://www.ncbi.nlm.nih.gov/pubmed/22302627.
        5. Chromosome 4, Monosomy 4q. NORD. August 2007; https://rarediseases.org/rare-disease-information/rare-diseases/byID/793/viewAbstract.
        6. Microarray-based Comparative Genomic Hybridisation (Array CGH). Unique. 2015; https://www.rarechromo.org/information/other/array%20cgh%20ftnw.pdf.

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