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Don’t fight Chromosome 18p duplication alone.
Find your community on the free RareGuru App.Chromosome 18p duplication is a rare chromosome abnormality in which there are three copies of the short (p) arm of chromosome 18 in each cell, rather than the usual two copies. The severity of the condition and the signs and symptoms depend on the size and location of the duplicated genetic material and which genes are involved. A complete duplication of the p arm of chromosome 18 is rare. Reported features include: intellectual disability, foot or hand anomalies, distinctive facial features, and epilepsy. Chromosome 18p duplication may occur sporadically in a family with no previous history or may be inherited from a parent with the same duplication or another chromosome abnormality, such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.
Source: GARD Last updated on 05-01-20
The severity of chromosome 18p duplication and the signs and symptoms present depend on the size and location of the duplicated genetic material and which genes are involved. Features commonly include: intellectual disability that ranges from mild to severe, characteristic facial features, and epilepsy. Other findings reported in the medical literature include: hand and foot anomalies, decreased muscle tone (hypotonia), and developmental delay.
Some researchers have suggested that several of the cases reported in the medical literature may represent cases in which other chromosome changes are present but are not yet identified. This may help explain the variability in the signs and symptoms present. It is additionally suspected that some individuals with chromosome 18p duplication may not be diagnosed if they have mild or absent signs and symptoms and are of normal intelligence.
Last updated on 05-01-20
To locate supportive resources for people with autism spectrum disorders, we recommend visiting the GARD page on autism spectrum disorders and reviewing the information available in the "Organizations" section of the page.
Last updated on 05-01-20
Because of the limited data published on chromosome 18p duplication, we were unable to locate information that discusses behaviors which might be observed.
We recommend you contact the nonprofit support and advocacy groups located in the "Organizations" section of the GARD resource page on chromosome 18p duplication, as these groups may have families of people with trisomy 18p registered with them. The members of these advocacy groups might be able to share information regarding behaviors present in their family members.
Last updated on 05-01-20
Because the presence and severity of signs and symptoms vary from person to person, treatment also varies. If an intellectual disability and/or developmental delay is present, early educational intervention and early services are important.
It is essential to work with one's person's health care provider and medical team to determine the appropriate medical management plan.
Last updated on 05-01-20
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