Rare Rheumatology News

Disease Profile

Chromosome 3p 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

#N/A

ICD-10

#N/A

Inheritance

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

no.svg

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

no.svg

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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

Duplication 3p; Trisomy 3p; 3p duplication;

Categories

Chromosome Disorders

Summary

Chromosome 3p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 3. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 3p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 3p duplication can be de novo or inherited from a parent with a balanced translocation.[1][2] Treatment is based on the signs and symptoms present in each person.

Symptoms

The signs and symptoms of chromosome 3p duplication vary but may include:[1][2]

  • Developmental delay
  • Intellectual disability
  • Hypotonia (poor muscle tone)
  • Cleft lip and palate
  • Behavioral problems
  • Short stature
  • Microcephaly (unusually small head)
  • Gastrointestinal abnormalities
  • Seizures
  • Congenital heart defects
  • Distinctive facial features (i.e. wide-spaced eyes, full cheeks, depressed nasal bridge, etc)
  • Genital abnormalities

Cause

People with chromosome 3p duplication have an extra (duplicate) copy of the 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 duplication and which genes are involved.[1][2]

In some cases, this duplication is inherited from a parent with a balanced translocation. Other cases are considered "de novo" and occur 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 duplication from happening.[1][2]

Diagnosis

There are several different specialized tests that can be used to diagnose a chromosome 3p duplication. These include:[3]

  • Karyotype a karyotype is a laboratory test that produces an image of a person's chromosomes. This test can be used to diagnose large duplications.
  • 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 duplications 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 duplication of a specific region of 3p.
  • Array CGH a technology that detects duplications that are too small to be seen on karyotype.

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 Chromosome 3p duplication. This website is maintained by the National Library of Medicine.

      In-Depth Information

      • PubMed is a searchable database of medical literature and lists journal articles that discuss Chromosome 3p duplication. Click on the link to view a sample search on this topic.

        References

        1. Han DH, Chang JY, Lee WI, Bae CW. A case of partial trisomy 3p syndrome with rare clinical manifestations. Korean J Pediatr. March 2012; 55(3):107-110.
        2. Natera-de Benito D, García-Pérez MA, Martínez-Granero MÁ, Izquierdo-López L.. A patient with a duplication of chromosome 3p (p24.1p26.2): a comparison with other partial 3p trisomies. Am J Med Genet A. 2014 Feb;164A(2):548-50. February 2014; 164A(2):548-550.
        3. Microarray-based Comparative Genomic Hybridisation (Array CGH). Unique. 2015; https://www.rarechromo.org/information/other/array%20cgh%20ftnw.pdf.

        Rare Rheumatology News