Chromosome 5p duplication
- 5p duplication
- 5p trisomy
- Duplication 5p
- Partial trisomy 5p
- Trisomy 5p
Your QuestionMy 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?
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Questions on this page
- What is a chromosome 5p duplication?
- What causes a chromosome 5p duplication?
- Is a chromosome 5p duplication the same as a 5p deletion?
- Can a chromosome 5p duplication cause Cri du chat syndrome?
- What signs and symptoms have been described in individuals with duplication 5p15.2pter?
- How can I find a genetics professional in my area?
- How can I find other families with the same chromosome abnormality?
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.
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.
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.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).
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:
- GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics.
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
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
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.
- Chromosome 5, Trisomy 5p. NORD. 2013; http://rarediseases.org/rare-diseases/chromosome-5-trisomy-5p/.
- Chromosome 5, Trisomy 5p. NORD. 2010; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/990/viewAbstract. Accessed 11/29/2011.
- Chromosomes and Rare Chromosome Disorders in General. Unique. September 2009; http://www.rarechromo.org/html/ChromosomesAndDisorders.asp. Accessed 11/29/2011.
- Cri-du-chat syndrome. Genetics Home Reference (GHR). February 2014; http://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome. Accessed 2/22/2015.