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Chromosome 4q Deletion Syndrome

Last updated April 19, 2018

Approved by: Krish Tangella MD, MBA, FCAP

Chromosome 4q Deletion Syndrome 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.


What are the other Names for this Condition? (Also known as/Synonyms)

  • Deletion 4q Syndrome
  • Monosomy 4q Syndrome
  • Partial Monosomy 4q Syndrome

What is Chromosome 4q Deletion Syndrome? (Definition/Background Information)

  • Chromosome 4q Deletion Syndrome 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
  • 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

(Source: Chromosome 4q Deletion Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Chromosome 4q Deletion Syndrome? (Age and Sex Distribution)

  • Chromosome 4q Deletion Syndrome is a rare congenital disorder. The presentation of symptoms may occur at birth
  • Both males and females may be affected
  • Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Chromosome 4q Deletion Syndrome? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Chromosome 4q Deletion Syndrome can be inherited
  • Currently, no other risk factors have been clearly identified for the syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Chromosome 4q Deletion Syndrome? (Etiology)

  • People with Chromosome 4q Deletion Syndrome 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: 
    • BMP3 - skeletal abnormalities and short stature
    • SEC31A - distinctive craniofacial features
    • PKD2 - kidney abnormalities
    • GRID2, NEUROG2 - neurological problems such as seizures, hypotonia, and delayed motor development (i.e. sitting up, walking, etc.)
    • ANK2, HAND2 - heart defects and/or arrhythmias
    • FGF2 - limb (arms and legs) abnormalities
  • 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
  • Chromosome 4q Deletion Syndrome is usually not inherited. The deletion often occurs sporadically as a random event during the formation of the egg or sperm. In this case, a person would have no family history of the condition but could pass the deletion on to children
  • Rarely, this deletion is passed down from parent to child. However, the symptoms and severity can vary between family members

(Source: Chromosome 4q Deletion Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

What are the Signs and Symptoms of Chromosome 4q Deletion Syndrome?

The signs and symptoms of Chromosome 4q Deletion Syndrome 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: 

  • 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

(Source: Chromosome 4q Deletion Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Chromosome 4q Deletion Syndrome Diagnosed?

There are several different specialized tests that can be used to diagnose a Chromosome 4q Deletion Syndrome. These include: 

  • 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

(Source: Chromosome 4q Deletion Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Chromosome 4q Deletion Syndrome?

The complications of Chromosome 4q Deletion Syndrome may include:

  • Digestive system abnormalities
  • Intellectual impairment

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Chromosome 4q Deletion Syndrome Treated?

Because Chromosome 4q Deletion Syndrome 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

(Source: Chromosome 4q Deletion Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Chromosome 4q Deletion Syndrome be Prevented?

Currently, Chromosome 4q Deletion Syndrome may not be preventable, since it is a genetic disorder.

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Chromosome 4q Deletion Syndrome? (Outcomes/Resolutions) 

  • The long-term outlook (prognosis) for people with Chromosome 4q Deletion Syndrome varies from person to person
  • The severity of the condition and the associated signs and symptoms largely depend on the size and location of the deletion and the genes involved

(Source: Chromosome 4q Deletion Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Additional and Relevant Useful Information for Chromosome 4q Deletion Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/

What are some Useful Resources for Additional Information?


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Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: April 19, 2018
Last updated: April 19, 2018