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 (
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).
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Abnormality of chromosome segregation||0002916|
|Abnormality of the metacarpal bones||
Abnormality of the long bone of hand
Loss of developmental milestones
Mental deterioration in childhood[ more ]
Widely spaced eyes[ more ]
|Hypoplasia of penis||
|Intellectual disability, severe||
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation[ more ]
Increased size of skull
Large head circumference[ more ]
Prominent ears[ more ]
Drooping upper eyelid
Absent/underdeveloped kidney[ more ]
Round facial appearance
Round facial shape[ more ]
Decreased body height
Small stature[ more ]
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.
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.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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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? See answer