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Genetic and Rare Diseases Information Center (GARD)

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Chromosome 5p duplication


Other Names for this Disease
  • 5p duplication
  • 5p trisomy
  • Duplication 5p
  • Partial trisomy 5p
  • Trisomy 5p
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Your Question

My daughter has been diagnosed with chromosome 5p duplication. I have searched the web for information and I keep seeing 5p deletion. Is this the same? Her exact chromosome abnormality is 5p15.2pter duplication. Is this Cri du chat syndrome?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is a chromosome 5p duplication?

Chromosome 5p duplication is a chromosome abnormality that occurs when there is extra genetic material on the short arm (p arm) of chromosome 5. Chromosomes are the structures that hold our DNA, which contains the instructions, called genes, which tell our bodies how to develop and function. Each chromosome has two sections, or arms. The shorter arm is called the p arm, and the longer arm is called the q arm. People with a chromosome 5p duplication have a total of three copies of a specific segment on the p arm (i.e. a copy from their mother, a copy from their father, and a copy occurring as a result of the duplication). Duplications can happen anywhere within the 5p region; signs and symptoms depend on the specific location of the duplication.[1]

For general information on chromosomes, click here.
Last updated: 11/29/2011

What causes a chromosome 5p duplication?

The exact cause is unknown; but in most cases, 5p duplications appears to be caused by random (de novo) errors very early in embryonic development. In such instances, the parents of the affected child usually have normal chromosomes and a relatively low risk of having another child with the chromosomal abnormality. You will need to speak with a genetics professional about how a specific chromosome abnormality might be inherited in your family.[2]
Last updated: 11/29/2011

Is a chromosome 5p duplication the same as a 5p deletion?

No. A deletion occurs when some of the genetic material on a particular part of a chromosome is missing or deleted. Like duplications, deletions can occur in any part of any chromosome (p arm or q arm). However, individuals with a 5p deletion have missing, instead of extra, genetic material. Because of this, those with a 5p deletion may have different signs and symptoms than those with a 5p duplication.[1]
Last updated: 11/29/2011

Can a chromosome 5p duplication cause Cri du chat syndrome?

No, Cri du chat syndrome is caused by a deletion on chromosome 5p, instead of a duplication. Cri du chat syndrome, also known as 5p- (5p minus) syndrome or cat cry syndrome, is a genetic condition that is caused by the deletion of genetic material on the small arm (the p arm) of chromosome 5. Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size, low birth weight, weak muscle tone in infancy, and distinctive facial features.[3]
Last updated: 11/29/2011

What signs and symptoms have been described in individuals with duplication 5p15.2pter?

The signs and symptoms caused by a chromosome 5p duplication vary widely from person to person. In general, when there has been a gain of chromosomal material, the associated symptoms might include a combination of physical problems, health problems, learning difficulties and/or challenging behavior. These symptoms largely depend on the location of the duplication on the p arm and the genes that are affected. There are general characteristics of chromosome abnormalities that occur in the majority of affected people to varying degrees. Most people with any loss or gain of material will have some degree of learning disability and developmental delay. This is because there are many genes located across all these chromosomes that provide instructions for normal development and function of the brain. Defects in any one of them could affect a person’s development.[1]

There is limited information on how chromosome abnormalities like duplication 5p15.2pter impact growth and development. Since each abnormality is usually so rare, there are few cases to learn from, let alone conduct research. It is generally difficult to say what the future will hold for affected individuals, because even when the chromosome abnormalities are similar the health problems can vary widely.[1]

In general, many affected infants and children with a 5p duplication have abnormalities that include low muscle tone (hypotonia); an unusually large head (macrocephaly), and additional abnormalities of the head and facial (craniofacial) area; long, slender fingers (arachnodactyly); developmental delay; and intellectual disability. Some affected individuals may have heart defects and seizures. It is important to understand, however, that not all individuals with a duplication of 5p will have all of the aforementioned symptoms. In fact, some individuals may only experience developmental delay and intellectual disability and may not exhibit any other physical findings.[2]

The range and severity of associated symptoms and findings depend on the length and location of the duplicated portion of the chromosome. Characteristic physical features of 5p duplications have been reported in individuals with complete duplications of 5p as well as those with various partial duplications. Comparison of the features and the overlapping areas, allows for the definition of a critical region for various features. The critical region for heart abnormalities and seizures is the duplication of 15p13.3. Most physical features are due to a duplication of the bands 5p11 to 5p13.3.[2]

The critical region for developmental delay and intellectual disability is thought to be the duplication of 5p14 to 5p15. Those who only have the duplication of 5p14 to 5p15 may not have any physical findings. Two boys have been reported with no intellectual disability that have duplication from 5p15.1 to 5p15.3 near the terminus (which is toward the terminus but beyond the area for reported intellectual disability).[2]
Last updated: 11/29/2011

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 6/22/2012

How can I find other families with the same chromosome abnormality?

Chromosome Disorder Outreach (CDO) provides information on chromosomal conditions and family matching. You can search their list of Registered Disorders to see if individuals have registered with the same condition. Contact the CDO for more information about how to connect with other families.

Chromosome Disorder Outreach
PO Box 724
Boca Raton, FL 33429
Telephone/Fax: 561-395-4252
E-mail: CDO@worldnet.att.net
Web site: http://www.chromodisorder.org

Unique, which is a support organization located in the United Kingdom, also has a list of Registered Chromosome Disorders in its membership. You can contact them about how to connect with these families.

Unique – Rare Chromosome Disorder Support Group
PO Box 2189
Surrey Intl CR3 5GN
Telephone:  440 1883 330766
E-mail: info@rarechromo.org
Web site: http://www.rarechromo.org 

Last updated: 3/29/2013

References