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Disease Profile

Partial deletion of the short arm of chromosome 3

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)

Partial deletion 3p; 3p partial deletion; Partial monosomy 3p;

Categories

Chromosome Disorders

Summary

Chromosome 3p partial deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the short arm (p) of chromosome 3 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. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.[1][2][3][4]

Symptoms

The severity of chromosome 3p deletion and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Some affected people may have no features of the condition, while others are very severely affected.

Signs and symptoms may include:[1][2][3][4]

  • Developmental delay
  • Intellectual disability
  • Autism spectrum disorder
  • Low birth weight
  • Feeding problems
  • Hypotonia
  • Distinctive craniofacial features (such as wide-spaced eyes; low-set ears; cleft lip and/or palateptosis)
  • Microcephaly (small head)
  • Seizures
  • Hearing loss
  • Congenital heart defects
  • Scoliosis or other skeletal problems
  • Extra fingers and/or toes
  • Kidney problems
  • Genital abnormalities

Cause

People with chromosome 3p partial deletion are missing genetic material located on the short arm (p) of chromosome 3 in each cell. The features associated with the condition vary significantly from person to person depending on the size and location of the deletion and which genes are involved. In many cases, this deletion occurs sporadically as a random event when the egg or the sperm is made. There is nothing that a person can do to cause or prevent this deletion from happening.[1][2][5]

Diagnosis

There are several different specialized tests that can be used to diagnose a chromosome 3p 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 3p.
  • Array CGH a technology that detects deletions that are too small to be seen on karyotype.

Treatment

Because chromosome 3p 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. A feeding tube may be recommended in infants with feeding difficulties who have trouble putting on weight. 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.[1][2][5]

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

    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
    • 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 Partial deletion of the short arm of chromosome 3.
      3p25 deletions
      3p26 deletions

      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 Partial deletion of the short arm of chromosome 3. Click on the link to view a sample search on this topic.

        References

        1. 3p25 Deletions. Unique. 2014; https://www.rarechromo.org/information/Chromosome%20%203/3p25%20deletions%20FTNW.pdf.
        2. 3p26 Deletions. Unique. 2013; https://www.rarechromo.org/information/Chromosome%20%203/3p26%20deletions%20FTNW.pdf.
        3. Lloveras E, Vendrell T, Fernández A, Castells N, Cueto A, Del Campo M, Hernando C, Villa O, Plaja A. Intrachromosomal 3p Insertion as a Cause of Reciprocal Pure Interstitial Deletion and Duplication in Two Siblings: Further Delineation of the Emerging Proximal 3p Deletion Syndrome. Cytogenet Genome Res. Feb 2015; [Epub ahead of print]:
        4. Mersal AY, Basha MK, Brinji ZS, Avand G. A Saudi Patient with an Interstitial Deletion of Short Arm of Chromosome 3 (p13 to p21) and its Association with Joubert's Syndrome Features. J Clin Neonatol. January 2013; 2(1):46-49.
        5. Chromosome 3, Monosomy 3p. NORD. 2009; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/993/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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